ValueSet-2.16.840.1.113883.13.277

Include these codes as defined in http://snomed.info/sct version http://snomed.info/sct/731000124108/version/20200901

Code	Display
4135001	11p partial monosomy syndrome
49013001	17 alpha-Hydroxyprogesterone aldolase deficiency
4199009	18p partial trisomy syndrome
54470008	3 beta-Hydroxysteroid dehydrogenase deficiency
237950009	3-Methylglutaconic aciduria
237951008	3-Methylglutaconic aciduria type 1
297231002	3-Methylglutaconic aciduria type 2
297232009	3-Methylglutaconic aciduria type 3
297233004	3-Methylglutaconic aciduria type 4
237952001	3-Methylglutaconic aciduria with normal 3-methylglutaconyl-CoA hydratase activity
57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
449819002	3p partial monosomy syndrome
205719003	46, XX true hermaphrodite
41797007	5,10-Methylenetetrahydrofolate reductase deficiency
70173007	5p partial monosomy syndrome
274945004	AA amyloidosis
14886009	Abdominal heart
398925009	Abducens nerve disorder
398760006	Abducens nerve palsy
398963001	Abducens nerve weakness
307680001	Abducting nystagmus
205731001	Aberrant spleen
190787008	Abetalipoproteinemia
204164000	Abnormal blue sclerae
83145004	Abnormal dermatoglyphic pattern
1284000	Abnormal jaw closure
205557000	Abnormal palmar creases
246767003	Abnormal saccadic eye movement
7973008	Abnormal vision
38074009	Abnormality of cortisol-binding globulin
460918005	Abnormality within thorax due to coarctation of aorta
449133000	Absence of pulmonary valve cusp
275349007	Absence of skull bone
204469002	Absence or hypoplasia of the umbilical artery
274151005	Absent testicle (congenital)
267454002	Acatalasemia
111393000	Acatalasia
61277005	Accelerated idioventricular rhythm
18166000	Accessory breast
20136007	Accessory carpal bones
85697009	Accessory eye muscle
204216001	Accessory eye muscles
30275001	Accessory kidney
1694004	Accessory lobe of lung
50956007	Accessory nipple
50847000	Accessory skeletal muscle
10362008	Accessory spleen
204245004	Accessory tragus
64727007	Accessory ureter
419494007	Accommodative esotropia
2391001	Achondrogenesis
42725006	Achondrogenesis, type IA
14870002	Achondrogenesis, type IB
254061001	Achondrogenesis, type II
86268005	Achondroplasia
190512008	Acquired adrenogenital syndrome
359730001	Acquired afibrinogenemia
250037002	Acquired anal stenosis
25904003	Acquired coagulation factor deficiency
14230004	Acquired factor VIII deficiency disease
413427002	Acquired fructose intolerance
86907008	Acquired generalized lipodystrophy
237902005	Acquired hypophosphatemia
60414003	Acquired lactase deficiency
442946007	Acquired long QT syndrome
5876000	Acquired pancytopenia
38837006	Acquired porencephaly
205258009	Acrocephalosyndactyly type I
70410008	Acrocephalosyndactyly type V
197151007	Acute anal fissure
372146004	Acute chest syndrome
234422006	Acute intermittent porphyria
194948006	Acute myocarditis - toxoplasmosis
12246008	Acute neuronopathic Gaucher's disease
234529004	Acute sarcoid polymyositis
444108000	Acute sickle cell splenic sequestration crisis
314031009	Acute toxoplasmosis chorioretinitis
281882003	AD type amyloidosis
363732003	Addison's disease
44940001	Adenosine deaminase deficiency
4409006	Adenosylcobalamin and methylcobalamin synthesis defect
69614003	Adenosylcobalamin synthesis defect
35602005	Adherent prepuce
62999006	Adiposogenital dystrophy
237777008	Adrenal cortical hyperplasia
386584007	Adrenal cortical hypofunction
419920004	Adrenal hyperplasia
111563005	Adrenal hypofunction
271077003	Adrenal virilism
237766002	Adrenocortical hemorrage
267395000	Adrenogenital disorder
65389002	Adrenoleukodystrophy
399249008	Adult fucosidosis
20756002	Adult hypophosphatasia
62009002	Adult neuronal ceroid lipofuscinosis
253878003	Adult type polycystic kidney disease type 1
253879006	Adult type polycystic kidney disease type 2
278504009	Afibrinogenemia
360434004	Aganglionosis of Auerbach's plexus
5102002	Agenesis of corpus callosum
253139000	Agenesis of corpus callosum with lipoma
204099004	Agenesis of eye
111338006	Agenesis of nerve
204208005	Agenesis of punctum lacrimale
80651009	Aicardi's syndrome
23132008	AL amyloidosis
265569002	Aland eye disease and ocular albinism
15890002	Albinism
410042009	Alcaptonuric ochronosis
19303008	Alcohol myopathy
60086000	Aldosterone deficiency
360381004	Alkaptonuria
17234001	Allantoic cyst
253137003	Alobar holoprosencephaly
68913001	Alpha Thalassemia
234385007	Alpha thalassemia-2 trait
191187006	Alpha trait thalassemia
30188007	Alpha-1-antitrypsin deficiency
39837002	Alternating esotropia
111528000	Alternating esotropia with A pattern
8553008	Alternating esotropia with noncommitance other than A OR V pattern
24566000	Alternating esotropia with V pattern
37214009	Alternating exotropia
31254003	Alternating exotropia with A pattern
76923000	Alternating exotropia with noncommitance other than A OR V pattern
57805002	Alternating exotropia with V pattern
13493007	Alternating exotropia with X AND/OR Y pattern
59257003	Alternating hyperphoria
232107008	Alternating hypertropia
387742006	Amblyopia
205203006	Amelia of lower limb
205160003	Amelia of upper limb
78494001	Amelogenesis imperfecta
16784003	Amino acid transport disorder
35912001	Aminoaciduria
78784005	Amyelia
17602002	Amyloidosis
201337008	Amyloidosis of the skin
204712000	Anal atresia
30037006	Anal fissure
197150008	Anal fissure and fistula
12313004	Androgen resistance syndrome
191180008	Anemia due to disorders of nucleotide metabolism
111577008	Anemia due to enzyme deficiency
89369001	Anencephalus
203922009	Anencephalus and similar anomalies
232147001	Anisometropic amblyopia
40315008	Annular pancreas
26624006	Anodontia
109444001	Anodontia of permanent dentition
109443007	Anodontia of primary dentition
204451006	Anomalies of great veins
204132007	Anomalies of lens shape
204805004	Anomalies of pancreas
461103003	Anomalous origin of arterial duct from right subclavian artery
460963006	Anomalous origin of arterial ligament from right subclavian artery
460517008	Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve
461105005	Anomalous origin of coronary artery from aorta
14482000	Anomalous origin of right subclavian artery
59631007	Anomalous pulmonary venous drainage
32194006	Anomalous pulmonary venous drainage to hepatic veins
23997001	Anomaly of dental arch
58244001	Anomaly of divergence
95462004	Anomaly of sex chromosome
81256000	Anomaly of tooth position
23610003	Anonychia
7183006	Anophthalmos
72779005	Anorectal fistula
68627009	Anorectal stricture
204142009	Anterior chamber anomalies
67289000	Anterior open bite
448790004	Anterior-posterior orientation of bicuspid aortic valve
233899006	Antidromic atrioventricular re-entrant tachycardia
448646002	Aortic arch hypoplasia distal to subclavian artery
17024001	Aortopulmonary window
205532005	Aplasia of muscle
25397008	Aqueduct of Sylvius anomaly
33595009	Arachnoid cyst
237717004	Arachnoid cyst of pituitary
23501004	Arginase deficiency
41013004	Argininosuccinate lyase deficiency
204493007	Arteriovenous malformation of precerebral vessels
254243001	Ash leaf spot, tuberous sclerosis
82785005	Astragaloscaphoid synostosis
51409009	Asymmetric crying face association
428887009	Asymmetrical sensorineural hearing loss
235082006	Asymmetry of mandible
235083001	Asymmetry of maxilla
397829000	Asystole
192957004	Ataxic infantile cerebral palsy
45762001	Atelomyelia
75019001	Athetoid cerebral palsy
204431007	Atresia and stenosis of aorta
204716002	Atresia of anus with fistula
204782009	Atresia of hepatic ducts
447902006	Atresia of left superior caval vein
204448004	Atresia of pulmonary artery with septal defect
448086006	Atresia of pulmonary trunk with absent left pulmonary artery
448087002	Atresia of pulmonary trunk with absent right pulmonary artery
204512003	Atresia of the posterior nares
17366009	Atrial arrhythmia
49436004	Atrial fibrillation
195080001	Atrial fibrillation and flutter
5370000	Atrial flutter
195069001	Atrial paroxysmal tachycardia
287057009	Atrial premature complex
70142008	Atrial septal defect
253371000	Atrial septal defect through coronary sinus orifice
60732002	Atrial septal defect with endocardial cushion defect, partial type
403798006	Atrichia congenita
233917008	Atrioventricular block
50799005	Atrioventricular dissociation
253373002	Atrioventricular septal defect - isolated atrial component
253414002	Atrioventricular septal defect and common atrioventricular junction
253416000	Atrioventricular septal defect: atrial and ventricular components
253142006	Atrophy of corpus callosum
408856003	Autistic disorder
43614003	Autistic disorder of childhood onset
307515009	Autoimmune factor VIII deficiency
183005	Autoimmune pancytopenia
237889002	Autosomal dominant hypophosphatemic rickets
254158000	Autosomal dominant ichthyosis vulgaris
254164007	Autosomal dominant lamellar ichthyosis
253880009	Autosomal dominant polycystic kidney disease in childhood
240081004	Autosomal recessive centronuclear myopathy
90505000	Autosomal recessive hypophosphatemic vitamin D refractory rickets
403780007	Autosomal recessive keratitis-ichthyosis-deafness syndrome
78921008	Autosomal recessive ocular albinism
251166008	AV nodal re-entry tachycardia
204152008	Axenfeld anomaly
403815003	Axillary freckling due to neurofibromatosis
236793007	Azoospermia with absent vasa in association with cystic fibrosis trait
17808001	Azygos lobe of lung
192787004	B variant hexosaminidase A deficiency
238023004	B variant hexosaminidase A deficiency - adult
238022009	B variant hexosaminidase A deficiency - juvenile
205673000	Balanced autosomal rearrangement in abnormal individual
205644003	Balanced autosomal translocation
254275003	Balanced rearrangement and structural marker
205674006	Balanced sex/autosomal rearrangement in abnormal individual
254276002	Balanced translocation and insertion in normal individual
234138005	Bannayan syndrome
5619004	Bardet-Biedl syndrome
76223006	Bat ear
69488000	Beaded hair
387732009	Becker muscular dystrophy
81780002	Beckwith-Wiedemann syndrome
193093009	Bell's palsy
25010000	Benign adult cystinosis
253129006	Benign autosomal dominant microcephaly
240080003	Benign congenital hypotonia
240078009	Benign congenital muscular dystrophy with finger flexion contractures
193222002	Benign congenital myopathy
58648008	Benign monoclonal gammopathy
92112008	Benign neoplasm of prepuce
92384009	Benign neoplasm of skin
395692003	Benign paraproteinemia
190810006	Benign primary hypergammaglobulinemic purpura
79592006	Beta ^+^ Thalassemia
86715000	Beta ^0^ Thalassemia
111572002	Beta ^0^ Thalassemia, nondeletion type
65959000	Beta Thalassemia
269175006	Beta thalassemia trait
238047006	Beta-D-mannosidosis
193728002	Better eye: moderate visual impairment, Lesser eye: moderate visual impairment
193727007	Better eye: moderate visual impairment, Lesser eye: severe visual impairment
193704004	Better eye: near total visual impairment, Lesser eye: near total visual impairment
193707006	Better eye: profound visual impairment, Lesser eye: near total visual impairment
193708001	Better eye: profound visual impairment, Lesser eye: profound visual impairment
193725004	Better eye: severe visual impairment, Lesser eye: severe visual impairment
31401003	Bicornuate uterus
237223005	Bicornuate uterus - baby delivered
237220008	Bicornuate uterus complicating antenatal care, baby not yet delivered
72352009	Bicuspid aortic valve
371189003	Bilateral acheiria
461094003	Bilateral arterial duct with patent left arterial duct and closed right arterial duct
20143001	Bilateral bundle branch block
427644005	Bilateral central hearing loss
204614006	Bilateral complete cleft palate with cleft lip
10155006	Bilateral congenital dislocation of hip
49813000	Bilateral congenital macrostomia
162344009	Bilateral deafness
461095002	Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus
38163003	Bilateral femoral hernia with gangrene
68126001	Bilateral femoral hernia with gangrene AND obstruction
17650003	Bilateral femoral hernia with obstruction but no gangrene
67069009	Bilateral femoral hernia without obstruction AND without gangrene
253989009	Bilateral incomplete cleft lip and alveolus
204615007	Bilateral incomplete cleft palate with cleft lip
7815009	Bilateral inguinal hernia with gangrene
9359003	Bilateral inguinal hernia with gangrene AND obstruction
66135001	Bilateral inguinal hernia with obstruction but no gangrene
196812007	Bilateral irreducible inguinal hernia
461096001	Bilateral patent arterial ducts
3762005	Bilateral recurrent femoral hernia with gangrene
13916005	Bilateral recurrent femoral hernia with gangrene AND obstruction
26320009	Bilateral recurrent femoral hernia with obstruction but no gangrene
12073000	Bilateral recurrent femoral hernia without obstruction AND without gangrene
53462005	Bilateral recurrent inguinal hernia with gangrene
42140004	Bilateral recurrent inguinal hernia with gangrene AND obstruction
73052009	Bilateral recurrent inguinal hernia with obstruction but no gangrene
204950001	Bilateral renal dysplasia
268232000	Bilateral renal hypoplasia
17604001	Bilateral right-sidedness sequence
430985005	Bilateral sensory hearing loss
400944001	Bilateral superior oblique palsy
205060000	Bilateral unstable hip
44332000	Bile acid malabsorption syndrome
86941000	Bile acid malabsorption syndrome type I
59285001	Bile acid malabsorption syndrome type II
91465007	Bile acid malabsorption syndrome type III
253804002	Biliary anomalies
8808004	Biotinidase deficiency
37384000	Birth injury to scalp
51089004	Birthmark
10170007	Blacks locks, oculocutaneous albinism AND deafness of the sensorineural type
68666001	Bladder fistula
267727004	Blind or low vision - both eyes
193699007	Blindness - both eyes
22950006	Blindness of one eye
251170000	Blocked premature atrial contraction
64779008	Blood coagulation disorder
48867003	Bradycardia
253258000	Branchial cleft
362998000	Branchial cleft anomaly
59857007	Branchial cleft cyst
204266007	Branchial cleft external sinus
204267003	Branchial cleft internal sinus
253259008	Branchial cleft sinus
268173005	Branchial cleft sinus and fistula
67569000	Bronchopulmonary dysplasia of newborn
11160000	Brown oculocutaneous albinism
35929003	Brown's tendon sheath syndrome
418818005	Brugada syndrome
404676002	Bruns nystagmus
82385007	Budd-Chiari syndrome
254167000	Bullous ichthyosiform erythroderma
404170009	Bullous urticaria pigmentosa
413728006	Buphthalmos
237755009	CAH - desmolase deficiency
20491006	Calcaneonavicular bar
233862006	Calcific aortic stenosis - bicuspid valve
82729001	Caput succedaneum
238049009	Carbohydrate-deficient glycoprotein syndrome
277893002	Carbohydrate-deficient glycoprotein syndrome type 1
410429000	Cardiac arrest
233927002	Cardiac arrest with successful resuscitation
8186001	Cardiomegaly
461099008	Cardiovascular abnormality due to patent arterial duct
421784001	Carnitine deficiency
238112001	Carnitine nutritional deficiency
90500005	Carnitine palmitoyltransferase deficiency
238001003	Carnitine palmitoyltransferase I deficiency
238002005	Carnitine palmitoyltransferase II deficiency
419671004	Catecholaminergic polymorphic ventricular tachycardia
235811005	Cecal volvulus
472823003	Cecoureterocele
204608004	Central cleft lip
43152001	Central core disease
68467004	Central hearing loss
1538006	Central nervous system malformation in fetus affecting obstetrical care
307675005	Central vestibular nystagmus
206200000	Cephalhematoma due to birth trauma
85102008	Cerebellar ataxia
361272001	Cerebellar ataxia due to alcoholism
253162003	Cerebral arachnoid cyst
234142008	Cerebral arteriovenous malformation
20059004	Cerebral artery occlusion
40720005	Cerebral cyst
418143002	Cerebral degeneration
2584003	Cerebral degeneration in childhood
75543006	Cerebral embolism
432504007	Cerebral infarction
195190007	Cerebral infarction due to embolism of cerebral arteries
195189003	Cerebral infarction due to thrombosis of cerebral arteries
16517004	Cerebral lipidosis
230774004	Cerebral palsy with spastic tetraparesis
71444005	Cerebral thrombosis
6729006	Cerebral-retinal arteriovenous aneurysm
230690007	Cerebrovascular accident
204497008	Cerebrovascular system anomalies
26885007	Cervical auricle
92806000	Cervical hemivertebra
205428001	Cervical hemivertebra - unbalanced
205427006	Cervical hemivertebra- balanced
72535009	Cervical rib
203934001	Cervical spina bifida with hydrocephalus
203948001	Cervical spina bifida with hydrocephalus - closed
203941007	Cervical spina bifida with hydrocephalus - open
204003007	Cervical spina bifida without hydrocephalus - open
203980004	Cervical spinal meningocele
204277001	Cervicoaural fistula
34145007	Cervicovesical fistula
50548001	Charcot-Marie-Tooth disease
398040009	Charcot-Marie-Tooth disease, type I
40632002	Charcot-Marie-Tooth disease, type IA
42986003	Charcot-Marie-Tooth disease, type IB
4183003	Charcot-Marie-Tooth disease, type IC
398187000	Charcot-Marie-Tooth disease, type II
111396008	Chédiak-Higashi syndrome
215617000	Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal
253983005	Cheilopalatoschisis
253184003	Chiari malformation
373587001	Chiari malformation type II
302962000	Chignon
30174008	Childhood hypophosphatasia
204508009	Choanal atresia
232374009	Choanal atresia with CHARGE association
232373003	Choanal atresia with radial ray hypoplasia
397868007	Choledochocele
44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency
278715001	Chondrodysplasia punctata
360507004	Chondrodysplasia punctata congenita
398719004	Chondrodysplasia punctata, Conradi-Hünermann type
254083002	Chondrodysplasia punctata, MT type
398958000	Chondrodysplasia punctata, X-linked dominant type
254082007	Chondrodysplasia punctata, X-linked recessive type
62501005	Chondroectodermal dysplasia
46627006	Chorioretinitis
16553002	Choroiditis
42686001	Chromosomal abnormality in fetus affecting obstetrical care
409709004	Chromosomal disorder
205672005	Chromosome inversion in normal individual
197152000	Chronic anal fissure
426749004	Chronic atrial fibrillation
425615007	Chronic atrial flutter
240551003	Chronic congenital cytomegalic inclusion disease
62201009	Chronic non-neuropathic Gaucher's disease
236379002	Chronic obstructive pyelonephritis
20322005	Chronic respiratory disease in perinatal period
234959004	Chronological enamel or dentine hypoplasia
254197008	Cicatricial junctional epidermolysis bullosa
398680004	Citrullinemia
12066005	Citrullinemia, late-onset type
30529005	Citrullinemia, neonatal type
3140001	Citrullinemia, subacute type
398630005	Citrullinuria
10899004	Classical galactosemia, homozygous Duarte-type
54064006	Classical maple syrup urine disease
7573000	Classical phenylketonuria
299034005	Claw hand
204620007	Cleft hard palate with cleft lip, bilateral
253994009	Cleft hard palate, bilateral
80281008	Cleft lip
373643003	Cleft lip and alveolus
253997002	Cleft of soft palate
87979003	Cleft palate
254000002	Cleft soft palate, bilateral
18910001	Cleft uvula
65976001	Cleidocranial dysostosis
84581000	Cloacal disease
373645005	Clonic hemifacial spasm
86075001	Coagulation factor deficiency syndrome
25258002	Coalition of calcaneus
7305005	Coarctation of aorta
450313008	Coarctation of aorta between left common carotid artery and right common carotid artery
450312003	Coarctation of aorta between subclavian artery and common carotid artery
450305007	Coarctation of infrarenal abdominal aorta
448637008	Coarctation of left pulmonary artery
26780008	Coarctation of pulmonary artery
447903001	Coarctation of right pulmonary artery
450304006	Coarctation of suprarenal abdominal aorta
73843004	Cobalamin A disease
82245003	Cobalamin B disease
74653006	Cobalamin C disease
31220004	Cobalamin D disease
31785008	Collet-Sicard syndrome
92828000	Coloboma of eye
9446007	Coloboma of iris
204134008	Coloboma of lens
47535005	Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
253160006	Colpocephaly
194419007	Combined conductive hearing loss
35691006	Combined deficiency of sialidase AND beta galactosidase
307128009	Combined long chain hydroxyacyl-CoA dehydrogenase deficiency
29692004	Combined molybdoflavoprotein enzyme deficiency
92830003	Combined valvular-subvalvular pulmonic stenosis
61959006	Common arterial trunk (truncus arteriosus)
73699003	Common arterial trunk and common origin of pulmonary arteries
448120000	Common arterial trunk with crossed over pulmonary arteries
448809003	Common arterial trunk with obstruction of aortic arch
447988007	Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch
448747000	Common arterial trunk with pulmonary origin from truncal valve sinus
360481003	Common atrioventricular canal
253276007	Common atrium
45503006	Common ventricle
302922004	Compensatory hypertrophy of single kidney
24743004	Complement deficiency disease
76842000	Complete aphalangia of upper limb
27885002	Complete atrioventricular block
80446009	Complete bilateral cleft lip
24194000	Complete bilateral cleft palate
254001003	Complete cleft of soft palate
8531006	Complete deafness
55852007	Complete phocomelia of lower limb
78018008	Complete phocomelia of upper limb
251123001	Complete right bundle branch block
205768003	Complete situs inversus with dextrocardia
51080000	Complete testicular feminization syndrome
26146002	Complete transposition of great vessels
21111006	Complete trisomy 13 syndrome
51500006	Complete trisomy 18 syndrome
41040004	Complete trisomy 21 syndrome
71703005	Complete trisomy 22 syndrome
230261006	Complicated hereditary spastic paraplegia
44808001	Conduction disorder of the heart
44057004	Conductive hearing loss
194415001	Conductive hearing loss due to disorder of middle ear
194414002	Conductive hearing loss due to disorder of tympanic membrane
194417009	Conductive hearing loss, bilateral
92875000	Congenital abnormal fusion of rib cartilage
92918008	Congenital abnormal shape of inner ear
204250005	Congenital abnormality of Eustachian tube
420049001	Congenital abnormality of lacrimal drainage system
268239009	Congenital abnormality of skull and face bones
42190000	Congenital absence of abdominal muscle
51635000	Congenital absence of all fingers
91874003	Congenital absence of arch of caudal vertebra
71084008	Congenital absence of arm AND forearm
38919006	Congenital absence of auricle with atresia of auditory canal
44315004	Congenital absence of auricle with stenosis of auditory canal
22421007	Congenital absence of bladder
371015003	Congenital absence of both testes
111324004	Congenital absence of breast
271020004	Congenital absence of breast with absent nipple
91876001	Congenital absence of caudal vertebra
91875002	Congenital absence of centrum of caudal vertebra
37687000	Congenital absence of cervix
72424001	Congenital absence of diaphragm
22138001	Congenital absence of ear lobe
204658006	Congenital absence of esophagus with tracheo-esophageal fistula
75231006	Congenital absence of eustachian tube
26061003	Congenital absence of external auditory canal
57436000	Congenital absence of external ear
74245009	Congenital absence of fibula
48301005	Congenital absence of finger
371197005	Congenital absence of foot
371199008	Congenital absence of hand
47713000	Congenital absence of humerus
418087009	Congenital absence of lacrimal drainage structure
25559009	Congenital absence of left pulmonary artery
15582005	Congenital absence of lobe of lung
66489009	Congenital absence of lung
204575008	Congenital absence of lung fissures
47880003	Congenital absence of muscle AND/OR tendon
75474006	Congenital absence of nipple
75311005	Congenital absence of ossicles of ear
27262009	Congenital absence of pectoral muscle
128064000	Congenital absence of portal vein
6996004	Congenital absence of pulmonary valve
84918006	Congenital absence of radius
70974002	Congenital absence of rib
39987008	Congenital absence of right pulmonary artery
22589009	Congenital absence of salivary gland
93030006	Congenital absence of spleen
79177001	Congenital absence of tibia
58010002	Congenital absence of tibia AND fibula
52022007	Congenital absence of ulna
77761000	Congenital absence of ureter
17142008	Congenital absence of uterus
15843004	Congenital absence of vertebra
111335009	Congenital absence of vulva
1922008	Congenital absence or urethra
253764008	Congenital absence, atresia and stenosis of small intestine
84449007	Congenital accessory skin tag
190511001	Congenital adrenal cortical hyperplasia
237751000	Congenital adrenal hyperplasia
2965006	Congenital alopecia
254225000	Congenital alopecia with keratin cysts
204765007	Congenital anal fistula
590005	Congenital aneurysm of anterior communicating artery
16972009	Congenital aneurysm of aorta
253646008	Congenital aneurysm of ascending aorta
54160000	Congenital aneurysm of sinus of Valsalva
447876009	Congenital aneurysm of subaortic left ventricle
205395006	Congenital angulation of tibia
69278003	Congenital aniridia
48249002	Congenital anisocoria
443341004	Congenital anomaly
81336004	Congenital anomaly of abdominal wall
60637003	Congenital anomaly of adrenal gland
3705009	Congenital anomaly of anterior chamber of eye
429448005	Congenital anomaly of anterior segment of eye
4711003	Congenital anomaly of bile ducts
449870006	Congenital anomaly of blood vessel of limb
449871005	Congenital anomaly of blood vessel of lower limb
432293006	Congenital anomaly of blood vessel of upper limb
57148006	Congenital anomaly of brain
83546008	Congenital anomaly of breast
67988000	Congenital anomaly of cartilage
65587001	Congenital anomaly of cerebrovascular system
88825008	Congenital anomaly of cervix
28574005	Congenital anomaly of coronary artery
88386004	Congenital anomaly of diaphragm
69518005	Congenital anomaly of digestive system
8380000	Congenital anomaly of ear
111339003	Congenital anomaly of ear with impairment of hearing
69771008	Congenital anomaly of esophagus
12362004	Congenital anomaly of external female genitalia
19416009	Congenital anomaly of eye
91158006	Congenital anomaly of eyelid
398302004	Congenital anomaly of face
59035004	Congenital anomaly of female genital system
20948006	Congenital anomaly of finger
69248007	Congenital anomaly of fixation of intestine
49714001	Congenital anomaly of gallbladder
65033000	Congenital anomaly of hair
70320004	Congenital anomaly of heart valve
43353004	Congenital anomaly of inner ear
38164009	Congenital anomaly of integument
126764002	Congenital anomaly of intestinal tract
41620007	Congenital anomaly of lacrimal gland
72292009	Congenital anomaly of larynx
33521009	Congenital anomaly of lens shape
60475009	Congenital anomaly of limb
89166001	Congenital anomaly of liver
31686000	Congenital anomaly of lower alimentary tract
84773003	Congenital anomaly of lower limb
47147007	Congenital anomaly of lung
4406004	Congenital anomaly of male genital system
128334002	Congenital anomaly of mouth
73573004	Congenital anomaly of musculoskeletal system
35964007	Congenital anomaly of nail
40052002	Congenital anomaly of neck
88425004	Congenital anomaly of nervous system
128274005	Congenital anomaly of nose
60505005	Congenital anomaly of optic disc
54873004	Congenital anomaly of orbit
75922002	Congenital anomaly of ossicles of ear
38296007	Congenital anomaly of ovary
46842007	Congenital anomaly of pancreas
70318002	Congenital anomaly of penis
430166008	Congenital anomaly of peripheral blood vessel
11223009	Congenital anomaly of pharynx
46722007	Congenital anomaly of pleural folds
36110001	Congenital anomaly of pulmonary artery
77868001	Congenital anomaly of respiratory system
49381001	Congenital anomaly of retina
199879009	Congenital anomaly of skin
81042008	Congenital anomaly of spinal cord
74877002	Congenital anomaly of spine
57497006	Congenital anomaly of spleen
24963004	Congenital anomaly of sternocleidomastoid muscle
60699003	Congenital anomaly of stomach
70195006	Congenital anomaly of superior vena cava
37939008	Congenital anomaly of the bladder
34111000	Congenital anomaly of the hand
44513007	Congenital anomaly of the kidney
73262007	Congenital anomaly of the urinary system
118642009	Congenital anomaly of the urinary tract proper
8649001	Congenital anomaly of thoracic cage
60447007	Congenital anomaly of tongue
34588007	Congenital anomaly of upper alimentary tract
66510004	Congenital anomaly of upper limb
51794008	Congenital anomaly of ureter
52904006	Congenital anomaly of vagina
65704008	Congenital anomaly of vulva
1239002	Congenital anteversion of femur
35387008	Congenital aphakia
282036005	Congenital arterial aneurysm
234141001	Congenital arteriovenous malformation
432734004	Congenital asymmetry of breasts
7438000	Congenital atresia of aorta
79977000	Congenital atresia of broad ligament
50513008	Congenital atresia of bronchus
37054000	Congenital atresia of colon
51118003	Congenital atresia of duodenum
26179002	Congenital atresia of esophagus
82821008	Congenital atresia of extrahepatic bile duct
360491009	Congenital atresia of jejunum
10930001	Congenital atresia of pulmonary artery
204342004	Congenital atresia of pulmonary valve
84296002	Congenital atresia of small intestine
63042009	Congenital atresia of tricuspid valve
39513007	Congenital atresia of vas deferens
405752007	Congenital atrial septal defect
77480004	Congenital biliary atresia
253205005	Congenital blocked tear duct
33534005	Congenital bowing of femur
9252005	Congenital bowing of tibia and/or fibula
288248009	Congenital bowing of tibia/fibula/femur
204551008	Congenital bronchial stenosis
77593006	Congenital bronchiectasis
95468000	Congenital bronchomalacia
253849004	Congenital buried penis
48061001	Congenital calculus of kidney
28550007	Congenital capsular cataract
48121000	Congenital cardiomegaly
45798009	Congenital cardiospasm
79410001	Congenital cataract
268159001	Congenital cataract and lens anomalies
2495006	Congenital cerebral arteriovenous aneurysm
19276002	Congenital cerebral cyst
253101008	Congenital cerebral hernia
36010004	Congenital cerebral meningocele
66597000	Congenital cervicoaural fistula
398197009	Congenital choledochal cyst
64320007	Congenital chordee
24210004	Congenital chorioretinal degeneration
111641000119102	Congenital choroid plexus cyst
74345006	Congenital chromosomal disease
13624003	Congenital cleft hand
232461002	Congenital cleft larynx
204558002	Congenital cleft of posterior cricoid cartilage
276449002	Congenital clubbing
44295002	Congenital coloboma of optic disc
205306000	Congenital complete absence of upper limb
204383001	Congenital complete atrioventricular heart block
205073001	Congenital complex varus foot deformity
51062009	Congenital constriction of pylorus
205359003	Congenital convex pes valgus
268160006	Congenital corneal opacity
13282008	Congenital corneal opacity interfering with vision
204148008	Congenital corneal opacity with visual deficit
204149000	Congenital corneal opacity without visual deficit
204378009	Congenital coronary aneurysm
33754009	Congenital coxa valga
74820003	Congenital coxa vara
20834007	Congenital cubitus varus
54176009	Congenital cyst of canal of Nuck
60652005	Congenital cyst of mediastinum
31339007	Congenital cyst of vulva
111318005	Congenital cystic adenomatoid malformation of lung
233627004	Congenital cystic bronchiectasis
72925005	Congenital cystic disease of liver
58882000	Congenital cystic eyeball
82525005	Congenital cystic kidney disease
87119009	Congenital cystic lung
204177009	Congenital cysts of the posterior segment
59527008	Congenital cytomegalovirus infection
276655000	Congenital deformity
27774009	Congenital deformity of ankle joint
75511006	Congenital deformity of chest wall
7921007	Congenital deformity of clavicle
398206004	Congenital deformity of face
2749000	Congenital deformity of hip joint
61293001	Congenital deformity of knee joint
232300004	Congenital deformity of labyrinth
72089000	Congenital deformity of nose
18132009	Congenital deformity of sacroiliac joint
205043005	Congenital deformity of spine
62667002	Congenital deviation of nasal septum
17190001	Congenital diaphragmatic hernia
3004001	Congenital dilatation of esophagus
111331000	Congenital dilatation of lobar intrahepatic bile duct
93059006	Congenital dilatation of pulmonary artery
445106006	Congenital dilation of left pulmonary artery
445167000	Congenital dilation of right pulmonary artery
275469001	Congenital diplegia
371629001	Congenital dislocation of elbow
48334007	Congenital dislocation of hip
59068006	Congenital dislocation of knee
205064009	Congenital dislocation of knee grade I
205065005	Congenital dislocation of knee grade II
205066006	Congenital dislocation of knee grade III
15453007	Congenital dislocation of knee with genu recurvatum
60108003	Congenital dislocation of one hip with subluxation of other
205067002	Congenital dislocation of patella
204980006	Congenital displaced kidney
81107006	Congenital diverticulum of bladder
8587003	Congenital diverticulum of colon
204667006	Congenital diverticulum of esophagus
93063004	Congenital diverticulum of intestinal tract
75270000	Congenital diverticulum of left ventricle
111328001	Congenital diverticulum of pharynx
90669003	Congenital diverticulum of stomach
253892009	Congenital diverticulum of ureter
16376000	Congenital duodenal stenosis
4195003	Congenital duplication of anus
42324007	Congenital duplication of cecum
58135005	Congenital duplication of cervix
28682004	Congenital duplication of colon
66865009	Congenital duplication of esophagus
3845008	Congenital duplication of intestine
13568007	Congenital duplication of stomach
15545001	Congenital duplication of uterus
315297006	Congenital dysgenetic ptosis
388981000	Congenital dystrophia brevicollis
254154003	Congenital ectodermal defect
74969002	Congenital ectopic lens
392461003	Congenital ectopic pupil
79120002	Congenital elevation of scapula
178935009	Congenital elliptocytosis
271387005	Congenital enlarged kidney
20392000	Congenital entropion
22935002	Congenital erythropoietic porphyria
41279003	Congenital esophagobronchial fistula
60983006	Congenital esophagotracheal fistula
17128000	Congenital eventration of diaphragm
12322003	Congenital eventration of left crus of diaphragm
3733009	Congenital eventration of right crus of diaphragm
5867007	Congenital exomphalos
302955009	Congenital extension contracture of the knee
230542008	Congenital facial nerve palsy
276671000	Congenital falciparum malaria
25642007	Congenital fissure of sternum
3803006	Congenital fissure of tongue
253774006	Congenital fistula of anus
11102005	Congenital fistula of lip
302952007	Congenital fistula of rectum and anus
205108007	Congenital flexion contracture of hip
205110009	Congenital flexion contracture of knee
204175001	Congenital folds and cysts of the posterior segment
204176000	Congenital folds of the posterior segment
204984002	Congenital fusion of kidneys
268223002	Congenital fusion of labia
54386000	Congenital fusion of ossicles of ear
66102006	Congenital fusion of ribs
5968001	Congenital fusion of sacroiliac joint
38827001	Congenital fusion of spine
268288009	Congenital generalized alopecia
205063003	Congenital genu recurvatum
89689008	Congenital genu valgum
79168008	Congenital genu varum
204529000	Congenital glottic web of larynx
27943000	Congenital glucose-galactose malabsorption
53842005	Congenital hallux valgus
79969004	Congenital hallux varus
46619002	Congenital heart block
13213009	Congenital heart disease
68359008	Congenital hemivertebra
42601008	Congenital hemolytic anemia
206373002	Congenital hepatitis A infection
278929008	Congenital hepatitis C infection
407000	Congenital hepatomegaly
111501005	Congenital hereditary muscular dystrophy
205022009	Congenital hernia of bladder
91576008	Congenital herpes simplex
47028006	Congenital hiatus hernia
59128005	Congenital honeycomb lung
109517008	Congenital horizontal mandibular hyperplasia
109523003	Congenital horizontal mandibular hypoplasia
82062003	Congenital hydrocele
47032000	Congenital hydrocephalus
281899002	Congenital hydrocephalus due to toxoplasmosis
16297002	Congenital hydronephrosis
31290005	Congenital hydroureter
62522004	Congenital hyperammonemia, type I
93235007	Congenital hyperplasia of adrenal gland
55856005	Congenital hyperplasia of kidney
403799003	Congenital hypertrichosis lanuginosa
48644003	Congenital hypertrophic pyloric stenosis
93073002	Congenital hypertrophy of ovary
232074003	Congenital hypertrophy of retinal pigment epithelium
4495005	Congenital hypertrophy of ureteric valve
109446004	Congenital hypodontia, multiple teeth, related to systemic disease
109445000	Congenital hypodontia, multiple teeth, unrelated to systemic disease
43910005	Congenital hypoplasia of aorta
60787001	Congenital hypoplasia of aortic arch
12075007	Congenital hypoplasia of ascending aorta
8915006	Congenital hypoplasia of breast
72252007	Congenital hypoplasia of cardiac vein
461366002	Congenital hypoplasia of descending aorta
32659003	Congenital hypoplasia of kidney
445209005	Congenital hypoplasia of left pulmonary artery
80825009	Congenital hypoplasia of lung
34911001	Congenital hypoplasia of penis
54682008	Congenital hypoplasia of pulmonary artery
445208002	Congenital hypoplasia of right pulmonary artery
461376004	Congenital hypoplasia of thoracoabdominal aorta
190268003	Congenital hypothyroidism
278503003	Congenital hypothyroidism with diffuse goiter
254156001	Congenital ichthyosiform erythroderma
13059002	Congenital ichthyosis of skin
204700004	Congenital ileal stenosis
204384007	Congenital incomplete atrioventricular heart block
271015004	Congenital instability of hip joint
28656008	Congenital insufficiency of aortic valve
29928006	Congenital insufficiency of mitral valve
15096009	Congenital insufficiency of pulmonary valve
217710005	Congenital iodine deficiency syndrome
237565000	Congenital iodine deficiency syndrome - mixed type
237566004	Congenital iodine deficiency syndrome - neurological type
204699000	Congenital jejunal stenosis
79855003	Congenital junctional epidermolysis bullosa
53748002	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome
6874009	Congenital keratoderma
204118005	Congenital keratoglobus
18749008	Congenital koilonychia
71311003	Congenital kyphosis
5388008	Congenital lactase deficiency
253737007	Congenital laryngomalacia
111336005	Congenital lateral curvature of penis
253544001	Congenital left ventricular aneurysm
448028009	Congenital left ventricular submitral valve aneurysm
47139007	Congenital leukonychia
13530005	Congenital lobulation of kidney
205592008	Congenital localized alopecia
442917000	Congenital long QT syndrome
287087003	Congenital lordosis/scoliosis
403438007	Congenital lower lip pits
27409004	Congenital macrocheilia
270516002	Congenital macroglossia
40159009	Congenital macrostomia
204179007	Congenital macular changes
276654001	Congenital malformation
253842008	Congenital malformation of clitoris
204042007	Congenital malformation of corpus callosum
275259005	Congenital malformation of ear
204821009	Congenital malformation of genital organs
235977001	Congenital malformation of pancreas
234124003	Congenital malformation of peripheral vascular system, unspecified
254041007	Congenital malformation of sternum
275260000	Congenital malformation of the respiratory system
253859003	Congenital malformation of the urinary system
205797000	Congenital malformation syndromes affecting facial appearance
205808005	Congenital malformation syndromes associated with short stature
253265008	Congenital malrotation of heart
109513007	Congenital mandibular asymmetry
10653003	Congenital mandibular hyperplasia
83660002	Congenital mandibular hypoplasia
109514001	Congenital maxillary asymmetry
28070007	Congenital maxillary hyperplasia
27299009	Congenital maxillary hypoplasia
360436002	Congenital megacolon
172069000	Congenital meningocele
68914007	Congenital mesenteroaxial volvulus of stomach
83714006	Congenital microgastria
240059009	Congenital muscular dystrophy
240061000	Congenital muscular dystrophy with arthrogryposis multiplex congenita
314508003	Congenital myogenic ptosis
57938005	Congenital myotonia, autosomal dominant form
20305008	Congenital myotonia, autosomal recessive form
240104008	Congenital myotonic dystrophy
267372009	Congenital non bullous ichthyosiform erythroderma
64635004	Congenital nystagmus
307670000	Congenital nystagmus with sensory abnormality
307671001	Congenital nystagmus without sensory abnormality
67876003	Congenital obstruction of aqueduct of Sylvius
46284005	Congenital obstruction of bladder neck
95508001	Congenital obstruction of lacrimal canal
373583002	Congenital obstructive megaureter
16619007	Congenital occlusion of ureter
93390002	Congenital ocular coloboma
18735004	Congenital omphalocele
88103004	Congenital onychauxis
239072003	Congenital palmoplantar and perioral keratoderma of Olmsted
204808002	Congenital pancreatic cyst
192949002	Congenital paraplegia
205101001	Congenital pectus carinatum
391982004	Congenital pectus excavatum
95466001	Congenital perforation of nasal septum
205091006	Congenital pes cavus
23407003	Congenital pes planus
253854008	Congenital phimosis
1519002	Congenital phlebectasia
205564003	Congenital pigmentary skin anomalies
38353004	Congenital porencephaly
190913009	Congenital porphyria
253900005	Congenital posterior urethral valves
447821002	Congenital posterolateral diaphragmatic hernia
24897005	Congenital postural lordosis
20944008	Congenital postural scoliosis
72855002	Congenital prognathism
19042000	Congenital prolapse of urethra
204257008	Congenital prominent auricle
268163008	Congenital ptosis
27986000	Congenital pulmonary arteriovenous aneurysm
204339005	Congenital pulmonary valve abnormality
204670005	Congenital pyloric spasm
204671009	Congenital pyloric stenosis
275468009	Congenital quadriplegia
111330004	Congenital rectovaginal fistula
236492003	Congenital renal artery aneurysm
271432005	Congenital renal artery stenosis
204941003	Congenital renal atrophy
943003	Congenital retinal aneurysm
253527000	Congenital right ventricular aneurysm
47082005	Congenital rubella pneumonitis
1857005	Congenital rubella syndrome
95478002	Congenital sacral meningocele
204635008	Congenital salivary gland fistula
205045003	Congenital scoliosis due to bony malformation
18620009	Congenital sequestration of lung
205093009	Congenital short Achilles tendon
47430002	Congenital shortening of leg
449691000	Congenital shortening of upper limb
400945000	Congenital sixth nerve palsy
65144005	Congenital spinal meningocele
36752001	Congenital splenomegaly
13236000	Congenital spondylolisthesis
80712009	Congenital spondylolysis of lumbosacral region
21234008	Congenital stenosis of aorta
18546004	Congenital stenosis of aortic valve
50429003	Congenital stenosis of aqueduct of Sylvius
10283004	Congenital stenosis of cervical canal
34821005	Congenital stenosis of choanae
253769003	Congenital stenosis of colon
62335009	Congenital stenosis of inferior vena cava
12070002	Congenital stenosis of larynx
82458004	Congenital stenosis of mitral valve
271431003	Congenital stenosis of nasolacrimal duct
449125001	Congenital stenosis of pulmonary artery
67278007	Congenital stenosis of pulmonary valve
14430002	Congenital stenosis of small intestine
45492009	Congenital stenosis of superior vena cava
9660004	Congenital stenosis of trachea
447810006	Congenital stenosis of trachea due to complete rings
447811005	Congenital stenosis of trachea due to tracheal web
36233006	Congenital stenosis of tricuspid valve
23544000	Congenital stenosis of vagina
43970002	Congenital stenosis of vagina affecting pregnancy
88244008	Congenital stenosis of vena cava
253977007	Congenital sternomastoid tumor
204723001	Congenital stricture of anus
204724007	Congenital stricture of anus with fistula
1512006	Congenital stricture of bile duct
43557002	Congenital stricture of external auditory canal
39476006	Congenital stricture of rectum
204728005	Congenital stricture of rectum with fistula
74919005	Congenital stricture of ureter
12897005	Congenital stricture of ureteropelvic junction
23402009	Congenital stricture of ureterovesical orifice
13671009	Congenital stricture of urethra
48337000	Congenital stricture of urinary meatus
8712002	Congenital subaortic stenosis due to fibromuscular shelf
472796007	Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart
56309007	Congenital subaortic stenosis of tunnel type
76562003	Congenital subcapsular cataract
204552001	Congenital subglottic stenosis
204530005	Congenital subglottic web of larynx
205052001	Congenital subluxation of hip, bilateral
63912009	Congenital subtotal cataract
7169009	Congenital supravalvular aortic stenosis
41514002	Congenital supravalvular mitral stenosis
35742006	Congenital syphilis
9941009	Congenital syphilitic choroiditis
275376007	Congenital syphilitic chronic coryza
32735002	Congenital syphilitic encephalitis
66083000	Congenital syphilitic epiphysitis
192008	Congenital syphilitic hepatomegaly
6267005	Congenital syphilitic meningitis
54069001	Congenital syphilitic mucous patches
58392004	Congenital syphilitic osteochondritis
276700005	Congenital syphilitic rhinitis
56118002	Congenital syphilitic splenomegaly
205083002	Congenital talipes calcaneovalgus
231250005	Congenital talipes calcaneus
253822004	Congenital torsion of ovary
268240006	Congenital torticollis
29590001	Congenital total cataract
284449005	Congenital total lipodystrophy
73893000	Congenital toxoplasmosis
95467005	Congenital tracheomalacia
109519006	Congenital transverse mandibular hyperplasia
109525005	Congenital transverse mandibular hypoplasia
109528007	Congenital transverse maxillary hypoplasia
204354004	Congenital tricuspid atresia and stenosis
268242003	Congenital unilateral subluxation of hip
373585009	Congenital ureterovesical obstruction
297163001	Congenital urethral valve
87093008	Congenital urethrorectal fistula
37849005	Congenital uterine anomaly
22099008	Congenital valgus deformity of foot
42162004	Congenital varus deformity of foot
400159008	Congenital vascular malformation
429304004	Congenital vascular malformation of orbit
254206003	Congenital vascular nevus
109518003	Congenital vertical mandibular hyperplasia
109524009	Congenital vertical mandibular hypoplasia
109529004	Congenital vertical maxillary hypoplasia
205082007	Congenital vertical talus
95476003	Congenital vesico-ureteric reflux
373637000	Congenital vesicoureterorenal reflux
276660001	Congenital viral disease
204171005	Congenital vitreous opacity
84974003	Congenital volvulus of stomach
89199004	Congenital web of esophagus
47070001	Congenital web of larynx
402769003	Congenital/genetic syndrome with poikiloderma
83492008	Congential syphilitic coryza
27648007	Congential syphilitic periostitis
399020009	Congestive cardiomyopathy
41337007	Conjoined twins
67372006	Conjunctivitis due to acquired toxoplasmosis
28975000	Constitutional aplastic anemia
267524009	Constitutional aplastic anemia with malformation
422065006	Constitutional short stature
300996004	Controlled atrial fibrillation
67320001	Convergence excess
194131002	Convergence insufficiency
81990004	Cor biloculare
55510008	Cor triatriatum
83799000	Corrected transposition of great vessels
204127006	Cortical and zonular cataract
47757001	Corticosterone 18-monooxygenase deficiency
237767006	Cortisol binding globulin high
237768001	Cortisol binding globulin low
32219008	Craniorachischisis
57219006	Craniosynostosis syndrome
28259009	Crigler-Najjar syndrome
8933000	Crigler-Najjar syndrome, type I
68067009	Crigler-Najjar syndrome, type II (68067009)
443819006	Critical illness myopathy
253866002	Crossed ectopia of kidney with fusion anomaly
253890001	Crossed ectopic ureter
28861008	Crouzon syndrome
109505006	Crowding of teeth due to supernumerary teeth
30911005	Cryoglobulinemia
400951005	Cryptophthalmos
204102004	Cryptophthalmos syndrome
282834007	Cutaneous amyloidosis
59399004	Cutis laxa, x-linked
12770006	Cyanotic congenital heart disease
60017001	Cyclophoria
70486007	Cyclotropia
47639008	Cyst - pilonidal
236439005	Cystic disease of kidney
190905008	Cystic fibrosis
86555001	Cystic fibrosis of the lung
190909002	Cystic fibrosis with intestinal manifestations (190909002)
86092005	Cystic fibrosis with meconium ileus
81423003	Cystic fibrosis without meconium ileus
190681003	Cystinosis
85020001	Cystinuria
37183000	Cystinuria, type 1
21952001	Cystinuria, type 2
42496002	Cystinuria, type 3
399216004	D - transposition of the great vessels
14447001	Dandy-Walker syndrome
445548006	Dead fetus in utero
473422006	Deafness of left ear
473421004	Deafness of right ear
360792001	Deficiency of alkaline phosphatase
124464003	Deficiency of alpha-galactosidase
124462004	Deficiency of alpha-glucosidase
124711003	Deficiency of argininosuccinate synthase
124166007	Deficiency of butyryl-CoA dehydrogenase
191296000	Deficiency of coagulation factor due to liver disease
191297009	Deficiency of coagulation factor due to vitamin K deficiency
124454007	Deficiency of glucan 1,4-alpha-glucosidase
124437004	Deficiency of glucose-6-phosphatase
124628005	Deficiency of histidine ammonia-lyase
124275001	Deficiency of hypoxanthine phosphoribosyltransferase
360854006	Deficiency of isomaltase
124718009	Deficiency of propionyl-CoA carboxylase
124331002	Deficiency of pyruvate kinase
90310002	Deficiency of saccadic eye movements
124221007	Deficiency of steroid 21-monooxygenase
38825009	Deficiency of testosterone biosynthesis
124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
79017007	Deformed pupil
52522001	Degenerative brain disorder
111499002	Déjérine-Sottas disease
253685001	Delayed closure of patent arterial duct
16360009	Delta beta Thalassemia
82959004	Dementia paralytica juvenilis
266421008	Dental arch relationship anomaly
196380002	Dentofacial anomaly
56405002	Dentofacial functional anomaly
60399005	Dermatofibrosis lenticularis disseminata
253821006	Developmental ovarian cyst
204991004	Deviation of ureter
271441000	Dextraposition of aorta
253514004	Dextraposition of aorta in Fallot's tetralogy
27637000	Dextrocardia
1720006	Dextroposition of aorta
427089005	Diabetes mellitus due to cystic fibrosis
88854002	Diamond-Blackfan anemia
34168003	Diaphragmatic eventration
39839004	Diaphragmatic hernia
56676008	Diaphragmatic hernia with gangrene
73651003	Diaphragmatic hernia with gangrene AND obstruction
81014006	Diaphragmatic hernia with obstruction but no gangrene
34643004	Diaphyseal dysplasia
111248006	Diastasis of muscle
62629000	Diastasis recti
49351009	Diastematomyelia
58561002	Diastrophic dysplasia
236475007	Dibasic aminoaciduria
82226007	Diffuse intraventricular block
77128003	DiGeorge sequence
29914000	Dihydrolipoamide dehydrogenase deficiency
58256000	Dihydropteridine reductase deficiency
35452009	Dilaceration of tooth
95576001	Dilatation of ureter
58911001	Dilated cardiomyopathy secondary to glycogen storage disease
11104006	Dilated cardiomyopathy secondary to phytanic acid storage disease
246635007	Dim vision
267427000	Disaccharidase deficiency
37891007	Discoid kidney
204296002	Discordant ventriculoarterial connection
44779003	Disorder of amino acid metabolism
426655001	Disorder of aromatic amino acid metabolism
15241006	Disorder of autonomic nervous system
80006005	Disorder of bilirubin metabolism
116020001	Disorder of branched-chain amino acid metabolism
20957000	Disorder of carbohydrate metabolism
54905006	Disorder of carbohydrate transport
45030009	Disorder of eye movements
39929009	Disorder of fatty acid metabolism
237963003	Disorder of galactose metabolism
238043005	Disorder of glucosaminoglycan metabolism
83076007	Disorder of glycine metabolism
238045003	Disorder of glycoprotein metabolism
362970003	Disorder of hemostatic system
44176004	Disorder of histidine metabolism
30913008	Disorder of iron metabolism
267431006	Disorder of lipid metabolism
237929000	Disorder of lysine and hydroxylysine metabolism
23585005	Disorder of lysosomal enzyme
237986005	Disorder of mitochondrial respiratory chain complexes
116021002	Disorder of organic acid metabolism
237928008	Disorder of ornithine metabolism
128123007	Disorder of peripheral autonomic nervous system
238059005	Disorder of peroxisomal function
87049008	Disorder of phosphorus metabolism
29094004	Disorder of porphyrin metabolism
238006008	Disorder of purine and pyrimidine metabolism
28882002	Disorder of sulfer-bearing amino acid metabolism
36444000	Disorder of the urea cycle metabolism (36444000)
371136004	Disorder of tooth development
5181007	Disorder of tryptophan metabolism
37200009	Disorder of tyrosine metabolism
190680002	Disorders of amino acid transport and metabolism
190932003	Disorders of bilirubin excretion
190760009	Disorders of pyruvate metabolism and gluconeogenesis
204687007	Displaced Meckel's diverticulum
67406007	Disseminated intravascular coagulation
9520006	Dissociated nystagmus
232108003	Dissociated vertical deviation
58795000	Distal muscular dystrophy
240079001	Distal muscular dystrophy with adult onset
193230001	Distal muscular dystrophy with juvenile onset
111506000	Distal muscular dystrophy, Miyoshi type
205255007	Distal radioulnar synostosis
95339000	Distichiasis
8634009	Distichiasis-lymphedema syndrome
266416005	Disturbance of tooth formation
314788004	Divergence insufficiency
246717005	Divergence paralysis
399252000	Divergent concomitant strabismus
253353007	Divided left atrium
274947007	Divided right atrium
38970002	Doan-Wright syndrome
20512000	Dominant congenital ichthyosiform erythroderma
2065009	Dominant hereditary optic atrophy
10451007	Double aortic arch
447970004	Double aortic arch with left arch dominant and atresia of right arch
447703009	Double aortic arch with left arch dominant and coarctation of right arch
447849009	Double aortic arch with right arch dominant and atresia of left arch
449536002	Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum
447850009	Double aortic arch with right arch dominant and coarctation of left arch
253283000	Double inlet left ventricle
253282005	Double inlet right ventricle
253284006	Double inlet to ventricle of indeterminate morphology
253281003	Double inlet ventricle
54967001	Double kidney
15347008	Double kidney AND/OR pelvis
275407001	Double kidney with double pelvis
7368005	Double outlet left ventricle
7484005	Double outlet right ventricle
253300003	Double outlet right ventricle with doubly committed ventricular septal defect
448516008	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
447284002	Double outlet right ventricle with intact ventricular septum
253299006	Double outlet right ventricle with noncommitted ventricular septal defect
253298003	Double outlet right ventricle with subaortic ventricular septal defect
448794008	Double outlet right ventricle with subpulmonary ventricular septal defect
14178006	Double renal pelvis
49496001	Double ureter
69015003	Double urethra
7601009	Double urinary meatus
21346009	Double uterus affecting pregnancy
50749006	Double Y syndrome
204838008	Doubling of uterus
61628006	Drug withdrawal syndrome in newborn
190524001	Drug-induced adrenocortical insufficiency
65242001	Drug-induced myasthenia
240101000	Drug-induced myopathy
239000007	Drug-induced pseudoporphyria
414063002	Duane syndrome with vertical deviation
60318001	Duane's syndrome
128082002	Duane's syndrome, type 1
128083007	Duane's syndrome, type 2
128084001	Duane's syndrome, type 3
76670001	Duchenne muscular dystrophy
279920004	Duct of epoophoron
13466009	Dynamic ileus
230780007	Dyskinetic cerebral palsy
276720006	Dysmorphism
254069004	Dysostosis multiplex
254185007	Dystrophic epidermolysis bullosa
204224006	Ear anomalies with hearing impairment
186833000	Early congenital syphilis - latent
4359001	Early congenital syphilis (less than 2 years)
266125005	Early congenital syphilis with symptoms
46235002	Early latent congenital syphilis, positive serology, negative spinal fluid
192871008	Early onset cerebellar ataxia with myoclonus
56989000	Eaton-Lambert syndrome
204357006	Ebstein's anomaly
447915002	Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections
253468007	Ebstein's anomaly of right atrioventricular valve
449087009	Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart
449158005	Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber
17394001	Ebstein's anomaly with atrial septal defect
448074008	Ebstein's anomaly with functional tricuspid stenosis
8654005	Ectodermal dysplasia
78250005	Ectopia cordis
419237004	Ectopia lentis et pupillae
5153001	Ectopic anus
406461004	Ectopic atrial beats
33413000	Ectopic beats
16507009	Ectopic kidney
19387007	Ectopic pancreas
89954008	Ectopic pancreatic tissue in stomach
29320008	Ectopic rhythm
65146007	Ectopic spleen
50911000	Ectopic testis
44796002	Ectopic ureter
253894005	Ectopic ureterocele
81208006	Ectrodactyly
29155003	Ectromelia of upper limb
398114001	Ehlers-Danlos syndrome
30652003	Ehlers-Danlos syndrome, type 3
240063002	Eichsfeld type congenital muscular dystrophy
83130006	Eisenmenger's defect
276704001	Electrode injury to scalp during birth
360431007	Embedded teeth
5361003	Embryonal nuclear cataract
253826001	Embryonic cyst of broad ligament
253833001	Embryonic cyst of cervix
302954008	Embryonic cyst of fallopian tube
268219005	Embryonic cyst of fallopian tube and broad ligament
82520000	Embryonic cyst of Gartner's duct
64233004	Embryonic fimbrial cyst
111508004	Emery-Dreifuss muscular dystrophy
26597004	Enamel hypoplasia
55999004	Encephalocele
53776005	Encephalocystocele
204021005	Encephalomyelocele
268274005	Enchondromatosis
440092001	Endemic congenital iodine deficiency syndrome of myxedematous type
15459006	Endocardial cushion defect
65457005	Endocardial fibroelastosis
57958006	Endocrine myopathy
129589009	Endogenous hyperlipidemia
398716006	Endomyocardial fibrosis
253795001	Enteric duplication
78548001	Enzymopathy
61003004	Epidermolysis bullosa
426399003	Epidural lipomatosis
289260002	Epigastric hernia
196880006	Epigastric hernia with gangrene
59658000	Epigastric hernia with gangrene AND obstruction
288269006	Epigastric hernia with obstruction but no gangrene
263993001	Epoophoron
204829006	Epoophoron cyst
78468005	Erb's muscular dystrophy
238952003	Eruptive xanthoma
254161004	Erythrodermic lamellar ichthyosis
37151006	Erythromelalgia
67312003	Erythropoietic porphyria
51022005	Erythropoietic protoporphyria
80773006	Escobar syndrome
204659003	Esophageal atresia with tracheo-esophageal fistula
62176008	Esophoria
16596007	Esotropia
194112008	Esotropia with accommodative compensation
232095008	Esotropia with nystagmus
232096009	Esotropia with nystagmus block
40278002	Essential benign fructosuria
239947001	Essential mixed cryoglobulinemia
109994006	Essential thrombocythemia
46343005	Exophoria
399054005	Exotropia
79303006	Expanded rubella syndrome
61758007	Exstrophy of bladder sequence
47111006	External ear conductive hearing loss
19373007	External ophthalmoplegia
253165001	Extradural spinal arachnoid cyst
422485001	Eye closure myotonia
16652001	Fabry's disease
1070000	Facial myokymia
422426003	Facial nerve disorder
8443005	Facial nerve sensory disorder
280816001	Facial palsy
399091004	Facioscapulohumeral muscular dystrophy
234440005	Factor VIII deficiency
109541006	Failure of exfoliation associated with ectopic eruption of succedaneous tooth
37404003	Failure of rotation of colon
204826004	Fallopian tube and broad ligament anomalies
204351007	Fallot's trilogy
42295001	Familial amyloid polyneuropathy
238040008	Familial combined hyperlipidemia
29159009	Familial dysautonomia
230546006	Familial facial nerve palsy
286289004	Familial generalized lipodystrophy
398036000	Familial hypercholesterolemia
238079002	Familial hypercholesterolemia - heterozygous
238078005	Familial hypercholesterolemia - homozygous
403831006	Familial hypercholesterolemia due to genetic defect of apolipoprotein B
278513006	Familial hyperkalemic periodic paralysis
237653008	Familial hyperparathyroidism
34528009	Familial hypertriglyceridemia
15346004	Familial hypoalphalipoproteinemia
109447008	Familial hypodontia
82732003	Familial hypokalemic periodic paralysis
238086005	Familial lipoprotein lipase deficiency
403827000	Familial lipoprotein lipase deficiency with type I phenotype
403828005	Familial lipoprotein lipase deficiency with type V phenotype
253168004	Familial megalencephaly
299465007	Familial multiple lipoprotein-type hyperlipidemia
237868006	Familial non-neuropathic amyloidosis
40381009	Familial normokalemic periodic paralysis
49292002	Familial partial lipodystrophy
267607008	Familial periodic paralysis
59229005	Familial porphyria cutanea tarda
233878008	Familial restrictive cardiomyopathy
233913007	Familial sick sinus syndrome
398796005	Familial type 3 hyperlipoproteinemia
34349009	Familial type 5 hyperlipoproteinemia
82236004	Familial x-linked hypophosphatemic vitamin D refractory rickets
40488004	Fanconi syndrome
30575002	Fanconi's anemia
26568002	Faun tail syndrome
236422008	Fechtner syndrome
47803004	Female digestive-genital tract fistula
36894006	Female genital tract-skin fistula
8800006	Female pseudohermaphroditism
12011009	Female urinary-genital tract fistula
205788004	Fetal alcohol syndrome
83095000	Fetal cephalhematoma
276507005	Fetal death
462172006	Fetal heart failure
462174007	Fetal heart failure with myocardial hypertrophy
462175008	Fetal heart failure with redistribution of cardiac output
70065001	Fetal hydantoin syndrome
431770003	Fetal macrocephaly
431265009	Fetal microcephaly
268822004	Fetal monitoring scalp injury
205791004	Fetus and newborn affected by maternal use of alcohol
206005002	Fetus or neonate affected by maternal infection
36558000	Fetus OR newborn affected by alcohol transmitted via placenta AND/OR breast milk
359727008	Fibrinogen deficiency
36025004	Fibrous skin tumor of tuberous sclerosis
367462009	First and second branchial arch syndrome
15557005	First arch syndrome
270492004	First degree atrioventricular block
204268008	Fistula of branchial cleft
10961005	Fistula of cervix
38851006	Fistula of intestine
29927001	Fistula of intestine to abdominal wall
85059005	Fistula of the female genital organs
398320008	Fistula of urachus
33010005	Floppy infant syndrome
88290000	Focal chorioretinitis due to acquired toxoplasmosis
404176003	Follicular occlusion tetrad - hidradenitis, acne conglobata, dissecting cellulitis, pilonidal sinus
249254001	Foreskin deficient
20610004	Fourth nerve palsy
613003	Fragile X syndrome
62767009	Franceschetti-Klein syndrome
397915002	Fredrickson type IIa hyperlipoproteinemia
238085009	Fredrickson type IV hyperlipoproteinemia
253103006	Frontal encephalocele
39452003	Fructose metabolism disorder
28183005	Fructose-biphosphatase deficiency
24338009	Fructosuria
64716005	Fucosidosis
57254004	Fukuhara syndrome
52452006	Fumarylacetoacetase deficiency, chronic type
38096003	Functional asplenia
59935001	Functional heart murmur
313165001	Functional visual loss
39302008	Fundus coloboma
190745006	Galactosemia
253803008	Gallbladder anomalies
111384001	Ganglioside sialidase deficiency
50967008	Gangliosidosis
74827000	Gangrenous hiatal hernia
10728006	Gangrenous paraesophageal hernia
75198005	Gastric diverticulum
371132002	Gastroesophageal reflux disease with hiatal hernia
7021009	Gastrointestinal eosinophilic granuloma
72951007	Gastroschisis
190794006	Gaucher's disease
274864009	Generalized glycogen storage disease of infants
267424007	Generalized glycogenosis
254194001	Generalized junctional epidermolysis bullosa
72839009	Geniculate ganglionitis
59780005	Giant kidney
27503000	Gilbert's syndrome
45414006	Glucocorticoid deficiency with achalasia
9111008	Glucoglycinuria
62403005	Glucose-6-phosphate dehydrogenase deficiency anemia
30102006	Glucose-6-phosphate transport defect
76175005	Glutaric aciduria, type 1
22886006	Glutaric aciduria, type 2
360416003	Glutaryl-CoA dehydrogenase deficiency
444707001	Glycogen storage disease type Ia
66937008	Glycogen storage disease type III
41527003	Glycogen storage disease type VIII
7265005	Glycogen storage disease, type I
237967002	Glycogen storage disease, type II
11179002	Glycogen storage disease, type IV
55912009	Glycogen storage disease, type V
29291001	Glycogen storage disease, type VI
89597008	Glycogen storage disease, type VII
33316007	GM>2< gangliosidosis
205418005	Goldenhar syndrome
205681004	Gonadal dysgenesis
93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
205800003	Gorlin-Chaudhry-Moss syndrome
23447005	GTP cyclohydrolase I deficiency
166929004	GTT = renal glycosuria
123644009	Gynandromorphism syndrome
4754008	Gynecomastia
275538002	H/O: anemia
161456009	H/O: anemia - iron deficient
161457000	H/O: Anemia vit.B12 deficient
266992002	H/O: blood disorder
161445009	H/O: diabetes mellitus
161458005	H/O: hemolytic anemia
161443002	H/O: hypothyroidism
161449003	H/O: nutritional disorder
161450003	H/O: raised blood lipids
161576001	H/O: urinary anomaly
75523000	Hamartomatous disease
39795003	Hand-Schüller-Christian disease
268245001	Harlequin fetus
205548006	Harlequin ichthyosis
22011005	Hartnup disorder, renal type
36891003	Hartnup disorder, renal/jejunal type
127040003	Hb SS disease
233916004	Heart block
471880001	Heart failure due to end stage congenital heart disease
88610006	Heart murmur
85641006	Hemianencephaly
254025006	Hemifacial microsomia
13753008	Hemifacial spasm
64008009	Hemimelia of upper limb
43486001	Hemiplegic cerebral palsy
66729008	Hemoglobin D disease
7391009	Hemoglobin D trait
234392002	Hemoglobin E/beta thalassemia disease
417425009	Hemoglobin SS disease with crisis
440206000	Hemoglobin SS disease with vasoocclusive crisis
416180004	Hemoglobin SS disease without crisis
80141007	Hemoglobinopathy
61261009	Hemolytic anemia
90935002	Hemophilia
191288005	Hemorrhagic disorder due to antithrombinemia
191287000	Hemorrhagic disorder due to circulating anticoagulants
191289002	Hemorrhagic disorder due to hyperheparinemia
191292003	Hemorrhagic disorder due to increase in anti-10a
191293008	Hemorrhagic disorder due to increase in anti-11a
191290006	Hemorrhagic disorder due to increase in anti-8a
191291005	Hemorrhagic disorder due to increase in anti-9a
38739001	Hepatic vein thrombosis
17681007	Hepatitis due to aquired toxoplasmosis
82966003	Hereditary angioneurotic edema
234619000	Hereditary C1 esterase inhibitor deficiency - deficient factor
234620006	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
7425008	Hereditary coproporphyria
191169008	Hereditary elliptocytosis
75443009	Hereditary elliptocytosis due to abnormal protein 4.1
8857001	Hereditary elliptocytosis due to alpha spectrin defect
73073009	Hereditary elliptocytosis due to beta spectrin defect in self-association
66262001	Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
5994005	Hereditary elliptocytosis due to deficiency of protein 4.1
15121005	Hereditary elliptocytosis due to glycophorin C deficiency
234410008	Hereditary elliptocytosis with transient poikilocytosis
41788008	Hereditary factor IX deficiency disease
28293008	Hereditary factor VIII deficiency disease
49762007	Hereditary factor XI deficiency disease (49762007)
20052008	Hereditary fructosuria
25744000	Hereditary gastrogenic lactose intolerance
38911009	Hereditary hemolytic anemia
254199006	Hereditary lymphedema
400211001	Hereditary lymphedema and yellow nails
399889006	Hereditary lymphedema type I
400040008	Hereditary lymphedema type II
398100001	Hereditary motor and sensory neuropathy
128203003	Hereditary motor and sensory neuropathy with optic atrophy
26360005	Hereditary optic atrophy
65017003	Hereditary peripheral neuropathy
191201002	Hereditary persistence of fetal hemoglobin
16964007	Hereditary persistence of fetal hemoglobin thalassemia
193225000	Hereditary progressive muscular dystrophy
41799005	Hereditary retinal dystrophy
398148000	Hereditary sensory and autonomic neuropathy type II
76043009	Hereditary sensory-motor neuropathy, type V
39912006	Hereditary spastic paraplegia
55995005	Hereditary spherocytosis
69981004	Hereditary spherocytosis due to beta spectrin defect
47516005	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
33905008	Hereditary spherocytosis due to deficiency of protein 4.2
25266006	Hereditary spherocytosis due to spectrin deficiency
14087004	Hereditary stomatocytosis
54627004	Hereditary xanthinuria
9311003	Hermansky-Pudlak syndrome
237821001	Hermaphroditism
52515009	Hernia of abdominal cavity
128545000	Hernia of abdominal wall
414396006	Hernia of anterior abdominal wall
414397002	Hernia of anterior abdominal wall with gangrene
414398007	Hernia of anterior abdominal wall with obstruction AND gangrene
414399004	Hernia of anterior abdominal wall without obstruction AND without gangrene
128602000	Heterotropia
19442009	Heterozygous Thalassemia
84089009	Hiatal hernia
88639006	Hiatal hernia with obstruction but no gangrene
309751007	Hiatus hernia - irreducible
309752000	Hiatus hernia with gangrene
448834003	High density lipoprotein deficiency
204739008	Hirschsprung's disease
410058007	Histidinemia
190955000	Histiocytosis X syndrome
429208004	History of aplastic anemia
472968007	History of autoimmune disorder of endocrine system
429217004	History of autoimmune hemolytic anemia
441638006	History of Diamond-Blackfan anemia
441586006	History of Fanconi anemia
472973001	History of immunodeficiency disorder
472972006	History of maturity onset diabetes mellitus in young
441482006	History of sickle cell anemia
473118009	History of ventricular septal defect
52212006	HNSHA due to glutathione reductase deficiency
30915001	Holoprosencephaly sequence
11282001	Homocystinuria
360373000	Homocystinuria vitamin B12-responsive type III
360378009	Homogentisate 1,2-dioxygenase deficiency
238054000	Homozygous acute intermittent porphyria
26682008	Homozygous beta Thalassemia
238053006	Homozygous erythropoietic protoporphyria
238056003	Homozygous hereditary coproporphyria
111386004	Homozygous porphyria cutanea tarda
238057007	Homozygous variegate porphyria
32123005	Hooft's syndrome
81756001	Horizontal nystagmus
70305005	Horizontal overbite
271730003	Horner's syndrome pupil
41729002	Horseshoe kidney
39586009	HPFH A gamma beta^+^ thalassemia
85557000	HPFH deletion type
54006005	HPFH delta beta^0^ thalassemia
61395005	HPFH G gamma beta^+^ thalassemia
89459006	HPFH linked to beta-globulin gene cluster
56205004	HPFH nondeletion type
5667009	Hunter's syndrome, mild form
73146005	Hunter's syndrome, severe form
30023002	Hydranencephaly
302882002	Hydrocephalus associated with congenital aqueduct stenosis
253102001	Hydroencephalocele
78071008	Hydromicrocephaly
11197005	Hydromyelia
310670008	Hydronephrosis with ureteropelvic junction obstruction
74740003	Hydrorhachis
69758005	Hydroureter
33116002	Hydroxykynureninuria
69194003	Hyperaldosteronism with nodular hyperplasia of adrenal cortex
9360008	Hyperammonemia
57119000	Hyperammonemia, type III
190773008	Hyperbetalipoproteinemia
37982009	Hyperdicarboxylicaminoaciduria AND hyperprolinemia
237765003	Hyperenimic hypoaldosteronism
65621006	Hyperextension deformity of knee
127388009	Hypergammaglobulinemia
64654004	Hyperglycinemia
50926003	Hyperimmunoglobulin E syndrome
55822004	Hyperlipidemia
3744001	Hyperlipoproteinemia
275598004	Hyperlipoproteinemia, type I
246769000	Hypermetric saccades
30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
82054006	Hyperostosis interna frontalis
66999008	Hyperparathyroidism
68528007	Hyperphenylalaninemia
445457002	Hyperplasia of maxillary bone
59655002	Hyperprolinemia
22006008	Hypertelorism
194021007	Hypertelorism of orbit
302870006	Hypertriglyceridemia
372281005	Hypertrophy of breast
88531004	Hypertrophy of kidney
643001	Hypertrophy of lip
40608009	Hypertropia
56595005	Hypertyrosinemia
4887000	Hypertyrosinemia, Richner-Hanhart type
237785004	Hypoadrenalism
190785000	Hypoalphalipoproteinemia
239021007	Hypodontia and nail dysgenesis
302866003	Hypoglycemia
236796004	Hypogonadism with prune belly syndrome
239007005	Hypohidrotic X-linked ectodermal dysplasia
240093008	Hypokalemic periodic paralysis
363140000	Hypolipoproteinemia
246768008	Hypometric saccades
109487003	Hypomineralization of enamel of tooth
36976004	Hypoparathyroidism, unspecified
190859005	Hypophosphatasia
190860000	Hypophosphatasia rickets
74728003	Hypopituitarism
40781006	Hypopituitarism due to pituitary tumor
268184003	Hypoplasia of aorta
35156002	Hypoplasia of cementum
204043002	Hypoplasia of corpus callosum
444897001	Hypoplasia of mandibular bone
444967008	Hypoplasia of maxillary bone
62067003	Hypoplastic left heart syndrome
236464008	Hyporenimic hypoaldosteronism
416010008	Hypospadias
204886001	Hypospadias and epispadias
204891000	Hypospadias, balanic
205027003	Hypospadias, female
204888000	Hypospadias, penile
204889008	Hypospadias, penoscrotal
204890004	Hypospadias, perineal
29491004	Hypotropia
408670001	Iatrogenic carnitine deficiency
70199000	I-cell disease
268282005	Ichthyosiform erythroderma
235916001	Ichthyosis congenita with biliary atresia
54336006	Ichthyosis linearis circumflexa
254157005	Ichthyosis vulgaris
307514008	Idiopathic factor VIII deficiency
206538000	Idiopathic hydrops fetalis
237654002	Idiopathic hypoparathyroidism
190470005	Idiopathic panhypopituitarism
33209009	Idiopathic progressive polyneuropathy
285423008	IgA monoclonal gammopathy of uncertain significance
285428004	IgD monoclonal gammopathy of uncertain significance
285424002	IgG monoclonal gammopathy of uncertain significance
285426000	IgM monoclonal gammopathy of uncertain significance
197049005	Ileocecal intussusception
17186003	Ileocolic intussusception
65277001	Imidazole aminoaciduria
426202004	Immune reconstitution syndrome
191008001	Immunodeficiency following hereditary defective response to Epstein-Barr virus
196416002	Impacted molars
196417006	Impacted third molar tooth
235104008	Impacted tooth
23672003	Impairment level: better eye: moderate impairment: lesser eye: blind, not further specified
79004009	Impairment level: better eye: moderate impairment: lesser eye: total impairment
13734003	Impairment level: better eye: profound impairment: lesser eye: total impairment
111518009	Impairment level: better eye: severe impairment: lesser eye: blind, not further specified
58937003	Impairment level: better eye: severe impairment: lesser eye: total impairment
91408006	Impairment level: blindness, one eye - low vision other eye
70556002	Impairment level: low vision of both eyes
75133003	Impairment level: moderate impairment of both eyes
38465001	Impairment level: near-total impairment of both eyes
35558006	Impairment level: one eye: moderate impairment: other eye: near-normal vision
16169003	Impairment level: one eye: moderate impairment: other eye: normal vision
22385004	Impairment level: one eye: moderate impairment: other eye: not specified
14781008	Impairment level: one eye: near-total impairment: other eye: near-normal vision
111519001	Impairment level: one eye: near-total impairment: other eye: normal vision
44381003	Impairment level: one eye: near-total impairment: other eye: not specified
82617003	Impairment level: one eye: profound impairment: other eye: near-normal vision
6131008	Impairment level: one eye: profound impairment: other eye: normal vision
4646004	Impairment level: one eye: profound impairment: other eye: not specified
72020003	Impairment level: one eye: severe impairment: other eye: near-normal vision
75000006	Impairment level: one eye: severe impairment: other eye: normal vision
31264007	Impairment level: one eye: severe impairment: other eye: not specified
78307003	Impairment level: one eye: total impairment: other eye: normal vision
2790002	Impairment level: one eye: total impairment: other eye: not specified
86643000	Impairment level: severe impairment of both eyes
204731006	Imperforate anus
204732004	Imperforate anus with fistula
204656005	Imperforate esophagus
65937002	Imperforate hymen
204702007	Imperforate jejunum
314032002	Inactive toxoplasmosis chorioretinitis
42930003	Inborn error of amino acid metabolism
86095007	Inborn error of metabolism
18378006	Incisional hernia with gangrene
414475000	Incisional ventral hernia with gangrene
414476004	Incisional ventral hernia with obstruction and gangrene
246751009	Incomitant esophoria
246752002	Incomitant exophoria
359824007	Incomplete anencephaly
77221000	Incomplete atrioventricular block with atrioventricular response
62815003	Incomplete bilateral cleft lip
47686007	Incomplete bilateral cleft palate
254002005	Incomplete cleft of soft palate
76477008	Incomplete congenital absence of arm AND forearm
204300001	Incomplete great vessel transposition
251124007	Incomplete right bundle branch block
67528009	Incomplete testicular feminization syndrome
218358001	Incontinentia pigmenti achromians syndrome
367520004	Incontinentia pigmenti syndrome
268229003	Indeterminate sex and pseudohermaphroditism
83858001	Indicanuria
205676008	Individual with autosomal fragile site
408857007	Infantile autism
230772000	Infantile cerebral palsy
61172008	Infantile fucosidosis
55236002	Infantile hypophosphatasia
367489004	Infantile malignant osteopetrosis
193238008	Infantile myotonia
58258004	Infantile neuronal ceroid lipofuscinosis
1178005	Infantile spastic cerebral palsy
35850006	Infantile uterus
312221005	Infective ureteritis
236045005	Inferior lumbar hernia
204370002	Infundibular pulmonic stenosis
80887004	Inherited methylmalonic acidemia AND homocystinuria
2438005	Iniencephaly
203927003	Iniencephaly - closed
203928008	Iniencephaly - open
3820005	Inner ear conductive hearing loss
238901000	Insulin lipoatrophy
228156007	Intellectual functioning disability
253366007	Interauricular septal defect
405287008	Intermediate maple syrup urine disease
194102001	Intermittent alternating esotropia
194104000	Intermittent alternating exotropia
27590007	Intermittent esotropia
405288003	Intermittent maple syrup urine disease
194101008	Intermittent monocular esotropia
194103006	Intermittent monocular exotropia
304544003	Intermittent torsion of testis
74025007	Intermittent tropia
2473007	Intermittent vertical heterotropia
26316005	Internal complete rectal prolapse with intussusception of rectosigmoid
49823009	Internuclear ophthalmoplegia
218728005	Interrupted aortic arch
90610005	Interstitial pulmonary fibrosis of prematurity
22169002	Intestinal disaccharidase deficiency
81060008	Intestinal obstruction
9707006	Intestinal volvulus
40046003	Intestinovesical fistula
30477007	Intra-abdominal hernia
253164002	Intradural spinal arachnoid cyst
253807009	Intrahepatic biliary atresia
199607009	Intrauterine death - delivered
4554005	Intraventricular conduction defect
111361008	Intussusception of cecum
27673007	Intussusception of colon
49723003	Intussusception of intestine
254192002	Inverse junctional epidermolysis bullosa
204153003	Irido-corneo-trabecular dysgenesis
196890003	Irreducible epigastric hernia
414543001	Irreducible hernia of anterior abdominal wall
196928001	Irreducible lumbar hernia
196933002	Irreducible obturator hernia
196938006	Irreducible pudendal hernia
196943004	Irreducible sciatic hernia
196957002	Irreducible Spigelian hernia
414544007	Irreducible ventral incisional hernia
246780000	Irregular eye movements
80138003	Isaacs syndrome
472100003	Ischemic dilated cardiomyopathy due to coronary artery disease
70911004	Ischiatic hernia
25646005	Isolated cystinuria
74034002	Isolated dextrocardia
307127004	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
72682008	Isolated xanthine oxidase deficiency
396184003	Isometropic amblyopia
87827003	Isovaleryl-CoA dehydrogenase deficiency
253982000	Jaw congenital deformities
266420009	Jaw to cranial base anomaly
5127009	Jaw-winking syndrome
399971009	Junctional epidermolysis bullosa
400140006	Junctional epidermolysis bullosa gravis of Herlitz
254196004	Junctional epidermolysis bullosa mitis
81681009	Junctional premature beats
251164006	Junctional premature complex
399045007	Juvenile fucosidosis
39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
444830001	Juvenile nephronophthisis
22830006	Juvenile nephropathic cystinosis
61663001	Juvenile neuronal ceroid lipofuscinosis
37028008	Juvenile tabes
68764005	Juvenile taboparesis
42402006	Kartagener syndrome
205686009	Karyotype 46, X iso (Xq)
205687000	Karyotype 46, X with abnormal sex chromosome except iso (Xq)
25792000	Kearns-Sayre syndrome
180485001	Kerasin thesaurismosis
239074002	Keratoderma with pachyonychia congenita
400059005	Keratosis pilaris atrophicans
236603009	Kinking of ureter
405769009	Klinefelter's syndrome, XXY
5601008	Klippel-Feil sequence
59078009	Klippel-Trenaunay-Weber syndrome
57480000	Known OR suspected fetal anencephaly affecting obstetrical care
80190007	Known OR suspected fetal hydrocephalus affecting obstetrical care
37382001	Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care
74561007	Kommerell's diverticulum
72945002	Kynureninase deficiency
110318003	Lack of anterior occlusal guidance
29512005	Lactase deficiency in diseases other than of the small intestine
267425008	Lactose intolerance
54250004	Lactose intolerance in children without lactase deficiency
205550003	Lamellar ichthyosis
403777006	Lamellar ichthyosis (limited type)
34638006	Lamellar ichthyosis AND trichorrhexis invaginata syndrome
65399007	Langerhans cell histiocytosis
129000002	Langerhans cell histiocytosis, unifocal (clinical)
372283008	Large breast
297159008	Laryngeal web
266126006	Late congenital neurosyphilis
230152000	Late congenital syphilitic meningitis
230563005	Late congenital syphilitic polyneuropathy
14637005	Late-infantile neuronal ceroid lipofuscinosis
68610001	Latent nystagmus
253166000	Lateral meningocele
24614000	Laterality sequence
232059000	Laurence-Moon syndrome
58610003	Leber's optic atrophy
37760005	Left anterior fascicular block
63467002	Left bundle branch block
4973001	Left bundle branch hemiblock
445027003	Left superior caval vein persisting to coronary sinus
449188001	Left superior caval vein persisting to coronary sinus and then to right sided atrium
445436005	Left superior caval vein persisting to left sided atrium
447812003	Left superior caval vein persisting to right atrium and left atrium
448332007	Left superior caval vein persisting to right sided atrium
41893002	Left ventricular-right atrial communication
65956007	Legal blindness
193731001	Legal blindness USA
10406007	Lesch-Nyhan syndrome
285430002	Light chain monoclonal gammopathy of uncertain significance
93153005	Limb-girdle muscular dystrophy
95522001	Limitation of movement of temporomandibular joint
361266001	Lip hypertrophy
10741005	Lipid storage disease
267437005	Lipidosis
71325002	Lipodystrophy
444163006	Lipodystrophy of face
84241008	Lipoid dermatoarthritis
11455007	Lipoidosis
402693001	Lipomatosis
71404003	Lipomatosis dolorosa
267436001	Lipoprotein deficiency disorder
267439008	Liposynovitis prepatellaris
204036008	Lissencephaly
427022004	Liver disease due to cystic fibrosis
253136007	Lobar holoprosencephaly
254191009	Localized junctional epidermolysis bullosa
233910005	Lone atrial fibrillation
237996001	Long chain acyl-CoA dehydrogenase deficiency
72239002	Long narrow head
9651007	Long QT syndrome
460495004	Long QT syndrome with genetic marker
204740005	Long segment Hirschsprung's disease
47206001	Long tubular intestinal duplication
1967001	Longitudinal absence of radius AND ulna
52837007	Longitudinal deficiency of femur
76744005	Longitudinal deficiency of fibula
16856000	Longitudinal deficiency of humerus
67341007	Longitudinal deficiency of limb
25301001	Longitudinal deficiency of phalanges of foot
22868008	Longitudinal deficiency of phalanges of hand
61900003	Longitudinal deficiency of radius
42808000	Longitudinal deficiency of tibia
111315008	Longitudinal deficiency of tibia AND/OR fibula
44444001	Longitudinal deficiency of ulna
193722001	Low vision, both eyes
79385002	Lowe syndrome
55475008	Lown-Ganong-Levine syndrome
93167001	Lumbar hemivertebra
205431000	Lumbar hemivertebra - balanced
205432007	Lumbar hemivertebra - unbalanced
23344004	Lumbar hernia
32740005	Lumbar hernia with gangrene
33652004	Lumbar hernia with obstruction
203936004	Lumbar spina bifida with hydrocephalus
203950009	Lumbar spina bifida with hydrocephalus - closed
203943005	Lumbar spina bifida with hydrocephalus - open
204012009	Lumbar spina bifida without hydrocephalus - closed
203982007	Lumbar spinal meningocele
204572006	Lung agenesis, hypoplasia and dysplasia
204319006	Lutembacher's syndrome
61701006	Lymphnocytic hypopituitarism
191018006	Lymphocyte function antigen-1 defect
25109007	Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome
340519003	Lysine intolerance
303852004	lysinuric protein intolerance
50056009	lysinuric protein intolerance, type 1
71751002	Lysinuric protein intolerance, type 2
237968007	Lysosomal alpha-1,4-glucosidase deficiency - infantile onset
19410003	Macrocephaly
367495003	Macrocolon
4136000	Macrodactylia of toes
205261005	Macrodactyly of fingers - simple
205262003	Macrodactyly of fingers- fatty nerve tumor
9740002	Macroencephaly
109516004	Macrogenia
190817009	Macroglobulinemia
23024003	Macrogyria
69056000	Macrotia
402461001	Maculopapular amyloidosis
4530000	Madelung's deformity
63365006	Madelung's neck
46041001	Maffucci syndrome
266419003	Major anomaly of jaw size
191001007	Major histocompatibility complex class I deficiency
191002000	Major histocompatibility complex class II deficiency
267426009	Malabsorption of glucose
253423004	Malaligned atrial septum
48723006	Male hypogonadism
111332007	Male pseudohermaphroditism
205016000	Malformation of urachus
47944004	Malocclusion of teeth
109500001	Malocclusion, Angle class I
235087000	Malocclusion, Angle class II, division 2
109504005	Malocclusion, Angle class III
6477005	Malrotation of colon
458422009	Malrotation of intestine with midgut volvulus
49008000	Malrotation of kidney
235080003	Mandibular jaw size anomaly
22810007	Mandibular prognathism
400966008	Manifest paralytic strabismus
285765003	Manifest-latent nystagmus
65524005	Mannosidosis
62311004	Mannosidosis, type I
58112007	Mannosidosis, type II
27718001	Maple syrup urine disease
71702000	Maple syrup urine disease, multiple dehydrogenase form
57201002	Marfanoid joint hypermobility syndrome
19346006	Marfan's syndrome
234035006	Marfan's syndrome affecting skin
206202008	Massive epicranial subaponeurotic hemorrhage due to birth trauma
327028001	Massive pubertal hypertrophy of breast
297225000	Maternal phenylketonuria
15796001	Maxillary prognathism
46420000	Mechanical ileus
5371001	Mechanical strabismus
111531004	Mechanical strabismus due to musculofascial disorder
37373007	Meckel's diverticulum
2132004	Meconium in amniotic fluid noted before labor in liveborn infant
59534005	Meconium in amniotic fluid, not clear if noted before OR after onset of labor in liveborn infant
128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency
204957003	Medullary cystic disease of the kidney
444699000	Medullary cystic kidney disease type 1
445503007	Medullary cystic kidney disease type 2
236443009	Medullary sponge kidney
253884000	Medullary sponge kidney with nephrocalcinosis
253885004	Medullary sponge kidney without nephrocalcinosis
268158009	Megalocornea
197823001	Megaloureter - acquired
400096001	Melanocytic nevus
400010006	Melanocytic nevus of skin
37770007	Melkersson's syndrome
171131006	Meningocele
268150002	Meningocele - cerebral
253122002	Meningocele - cranial
17949000	Meningoencephalitis due to acquired toxoplasmosis
52330001	Meningoencephalocele
91138005	Mental retardation
16567006	Mesocardia
26111005	Metabolic myopathy
81539007	Metatarsus primus varus
4852000	Metatarsus varus
28093001	Methylene THF reductase deficiency AND homocystinuria
42393006	Methylmalonic acidemia
1829003	Microcephalus
18389004	Microcolon
109522008	Microgenia
32614006	Microglossia
4945003	Microgyria
61142002	Microphthalmos
33229005	Microphthalmos associated with other anomalies of eye AND/OR adnexa
14582003	Microstomia
35045004	Microtia
61743004	Middle ear conductive hearing loss
24975009	Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
32648007	Mild hereditary spherocytosis due to spectrin deficiency
86765009	Mild mental retardation (I.Q. 50-70)
389159004	Mild spondyloepiphyseal dysplasia with premature onset arthrosis
253148005	Miller Dieker syndrome
237919007	Minimal pigment oculocutaneous albinism
430934002	Mitochondrial mutation
237999008	Mitochondrial trifunctional protein deficiency
37934003	Mitochondrial-lipid-glycogen storage myopathy
77507001	Mixed conductive AND sensorineural hearing loss
194429000	Mixed conductive and sensorineural hearing loss, bilateral
83579008	Mixed gonadal dysgenesis
236055009	Mixed hiatus hernia
267434003	Mixed hyperlipidemia
54016002	Mobitz type I incomplete atrioventricular block
28189009	Mobitz type II atrioventricular block
61152003	Moderate mental retardation (I.Q. 35-49)
397542006	Moderate visual impairment
423095007	Molded baby syndrome
109983007	Monoclonal gammopathy (clinical)
277577000	Monoclonal gammopathy of uncertain significance
267440005	Monoclonal paraproteinemia
5455000	Monocular esotropia
58409000	Monocular esotropia with A pattern
80899006	Monocular esotropia with noncommitance other than A OR V pattern
65215002	Monocular esotropia with V pattern
94695009	Monocular esotropia with X or Y pattern
194078004	Monocular esotropia with X pattern
5725006	Monocular exotropia
45062007	Monocular exotropia with A pattern
13762005	Monocular exotropia with noncommitance other than A OR V pattern
111529008	Monocular exotropia with V pattern
31022000	Monocular exotropia with X AND/OR Y pattern
194090002	Monocular exotropia with X pattern
194092005	Monocular exotropia with Y pattern
14785004	Monofixation syndrome
92972001	Monophthalmos
56409008	Monoplegic cerebral palsy
230778001	Monoplegic cerebral palsy affecting lower limb
230777006	Monoplegic cerebral palsy affecting upper limb
87310001	Monorchism
205638002	Monosomy 21, mosaicism
378007	Morquio syndrome
205689002	Mosaicism 45, X / other cell line with abnormal sex chromosome
302960008	Mosaicism 45, X; 46, XX
84752003	Mottled teeth, congenital
76719002	Mottling of enamel
69825009	Mucocele of salivary gland
11380006	Mucopolysaccharidosis
65327002	Mucopolysaccharidosis, MPS-I-H
26745009	Mucopolysaccharidosis, MPS-I-H/S
70737009	Mucopolysaccharidosis, MPS-II
41572006	Mucopolysaccharidosis, MPS-III-A
59990008	Mucopolysaccharidosis, MPS-III-B
75238000	Mucopolysaccharidosis, MPS-III-C
15892005	Mucopolysaccharidosis, MPS-III-D
73123008	Mucopolysaccharidosis, MPS-I-S
7259005	Mucopolysaccharidosis, MPS-IV-A
238044004	Mucopolysaccharidosis, MPS-IV-B
204962002	Multicystic kidney
403816002	Multiple café-au-lait macules due to neurofibromatosis
444406006	Multiple congenital anomalies
204068000	Multiple congenital cerebral cysts
254044004	Multiple congenital exostosis
116022009	Multiple congenital malformations
230549004	Multiple cranial nerve palsies of ocular motor nerves
78152008	Multiple cranial nerve palsy
59708000	Multiple epiphyseal dysplasia
313339007	Multiple epiphyseal dysplasia tarda type IIIa
403817006	Multiple neurofibromas in neirofibromatosis
205819008	Multiple pterygium syndrome
9105005	Muscle AMP deaminase deficiency
84264005	Muscle carnitine deficiency
73297009	Muscular dystrophy
91637004	Myasthenia gravis
31839002	Myasthenia gravis, adult form
80976008	Myasthenic crisis
29956001	Myelatelia
253124001	Myelodysplasia of the spinal cord
47739002	Myelophthisis
76534005	Myocarditis due to acquired toxoplasmosis
68448003	Myoclonus epilepsy AND ragged red fibers
257277002	Myoneural disorder
193248005	Myopathy due to disseminated lupus erythematosus
193249002	Myopathy due to polyarteritis nodosa
193250002	Myopathy due to rheumatoid arthritis
193253000	Myopathy due to Sjögren's disease
193252005	Myopathy due to systemic sclerosis
240091005	Myopathy in hypoparathyroidism
14289006	Myopathy in hypopituitarism
203042003	Myositis in sarcoidosis
441636005	Myotonia due to drug
64741003	Myotonic cataract
193237003	Myotonic disorder
82077006	Myotubular myopathy
15080006	Myotubular myopathy with type I atrophy
192876003	Myxedema cerebellar degeneration
64491003	Myxedematous form of cretinism
65455002	Nasal encephalocele
253106003	Nasofrontal encephalocele
253107007	Nasopharyngeal encephalocele
11731003	Neck webbing
43019009	Nelson syndrome
75072002	Nemaline myopathy
414819007	Neonatal Abstinence Syndrome
238061001	Neonatal adrenoleucodystrophy
413341007	Neonatal bradycardia
180906006	Neonatal cardiac arrest
359646002	Neonatal disseminated listeriosis
276513001	Neonatal dysrhythmia
80473005	Neonatal hyperhistidinemia
205294008	Neonatal hypotonia
82178003	Neonatal myasthenia gravis
413342000	Neonatal tachycardia
206572008	Neonatal withdrawal symptoms from maternal use of drugs of addiction
204958008	Nephronophthisis
312514006	Netherton's syndrome
253098009	Neural tube defect
78572006	Neurocutaneous syndrome
19133005	Neurofibromatosis syndrome
92824003	Neurofibromatosis, type 1
92503002	Neurofibromatosis, type 2
255522009	Neuromyopathy
305719002	Neuromyotonia
42012007	Neuronal ceroid lipofuscinosis
80902009	Neutral 1 amino acid transport defect
55602000	Nezelof's syndrome
52165006	Niemann-Pick disease, type A
39390005	Niemann-Pick disease, type B
66751000	Niemann-Pick disease, type C
86444004	Niemann-Pick disease, type C, acute form
72488000	Niemann-Pick disease, type C, chronic form
67855008	Niemann-Pick disease, type C, subacute form
18927009	Niemann-Pick disease, type D
73399005	Niemann-Pick disease, type E
71792006	Nodal rhythm disorder
424795008	Non dystrophic myotonia
46674002	Nondiabetic proliferative retinopathy
254163001	Non-erythrodermic lamellar ichthyosis
234956006	Non-hereditary disturbance of tooth formation
276509008	Non-immune hydrops fetalis
111000119104	Nonischemic congestive cardiomyopathy
237939006	Non-ketotic hyperglycinemia
7806002	Non-neurologic xeroderma pigmentosum
69609002	Nonobstructive cardiomyopathy
39260000	Nonparoxysmal AV nodal tachycardia
38032004	Nonpersistence of intestinal lactase
233911009	Non-rheumatic atrial fibrillation
444658006	Nonsustained ventricular tachycardia
30753002	Normal pressure hydrocephalus
34960006	Normosomatic sialidosis
195023001	Nutritional and metabolic cardiomyopathies
237903000	Nutritional hypophosphatemia
563001	Nystagmus
46888001	Nystagmus associated with disorder of the vestibular system
162926009	O/E - funnel chest
164018003	O/E - Horner's syndrome
162924007	O/E - pigeon chest
163089005	O/E -functional cardiac murmur
163946009	O/E-R-eye completely blind
266242007	Obscure African cardiomyopathy
196903009	Obstructed diaphragmatic hernia
196885001	Obstructed epigastric hernia
414923000	Obstructed hernia of anterior abdominal wall
414924006	Obstructed incisional ventral hernia
196956006	Obstructed Spigelian hernia
196859000	Obstructed umbilical hernia
40650009	Obstruction of colon
60627008	Obturator hernia
40102009	Obturator hernia with gangrene
61456005	Obturator hernia with obstruction
445468002	Occipital meningocele
410486005	Occlusion amblyopia
195233001	Occlusion and stenosis of anterior cerebral artery
195236009	Occlusion and stenosis of multiple and bilateral cerebral arteries
195234007	Occlusion and stenosis of posterior cerebral artery
26399002	Ocular albinism
78642008	Ocular albinism, type I
52171000	Ocular albinism-lentigines-deafness syndrome
79161002	Ocular dysmetria
67747009	Ocular muscular dystrophy
230684008	Ocular myasthenia
414927004	Ocular myasthenia with strabismus
51464001	Oculocraniosomatic syndrome
63844009	Oculocutaneous albinism
268267000	Oculomandibular dysostosis
77097004	Oculopharyngeal muscular dystrophy
59566000	Oligohydramnios
199653002	Oligohydramnios - delivered
41962002	Oligohydramnios sequence
199654008	Oligohydramnios with antenatal problem
54213000	Oligohydramnios without rupture of membranes
18417009	Oligomeganephronic hypoplasia of kidney
51877002	Omental torsion
196864001	Omphalocele - irreducible
1542009	Omphalocele with obstruction
193712007	One eye blind, one eye low vision
16110005	Ophthalmoplegia
77835008	Ophthalmoplegia plus syndrome
81771002	Opitz-Frias syndrome
19448008	Optic atrophy associated with retinal dystrophy
373661007	Optic disc structural anomaly
276426004	Ornithine aminotransferase deficiency
80908008	Ornithine carbamoyltransferase deficiency
233898003	Orthodromic atrioventricular re-entrant tachycardia
84727000	Osteitis fibrosa cystica generalisata
240190009	Osteochondrodysplasia
12010005	Osteodystrophy
78314001	Osteogenesis imperfecta
385482004	Osteogenesis imperfecta type I
63890001	Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta
64404003	Osteogenesis imperfecta with blue sclerae AND normal teeth
15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
1926006	Osteopetrosis
9147009	Osteopoikilosis
254124008	Osteosclerosis - Stanescu type
17718000	Ostium primum defect
204315000	Ostium secundum type atrial septal defect
109393007	Otomandibular dysostosis
205683001	Ovarian dysgenesis
286916005	Ovarian or testicular dysfunction
63934006	Overriding aorta
18978002	Ovotestis
373607009	Oxalosis
253986002	Palatoschisis
1534008	Palsy of conjugate gaze
127034005	Pancytopenia
234367000	Pancytopenia with pancreatitis
275523003	Pancytopenia-dysmelia
32390006	Panhypopituitarism
237682009	Panhypopituitarism - anterior and posterior
237683004	Panhypopituitarism - X-linked
204362007	Parachute malformation of mitral valve
3662000	Paraesophageal hernia
55525008	Paralytic ileus
95625008	Paralytic ileus of the newborn
400942002	Paralytic strabismus
41574007	Paramyotonia congenita
13758004	Paraphimosis
236048007	Parastomal hernia
298136004	Parastomal urostomy hernia
16195001	Parathyroid hypocalcemic tetany
37991008	Parinaud's syndrome
282825002	Paroxysmal atrial fibrillation
427665004	Paroxysmal atrial flutter
39357005	Paroxysmal atrial tachycardia with block
195070000	Paroxysmal atrioventricular tachycardia
233915000	Paroxysmal familial ventricular fibrillation
195071001	Paroxysmal junctional tachycardia
195072008	Paroxysmal nodal tachycardia
67198005	Paroxysmal supraventricular tachycardia
12026006	Paroxysmal tachycardia
66657009	Paroxysmal ventricular tachycardia
253140003	Partial agenesis of corpus callosum
68237008	Partial anomalous pulmonary venous connection
447939007	Partial anomalous pulmonary venous connection of entire left lung
447827003	Partial anomalous pulmonary venous connection of entire right lung
447664007	Partial anomalous pulmonary venous connection of part of left lung
447860000	Partial anomalous pulmonary venous connection of part of right lung
447861001	Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence
59070002	Partial aphalangia of lower limb
45482001	Partial aphalangia of upper limb
195039008	Partial atrioventricular block
64969001	Partial congenital absence of teeth
237685006	Partial hypopituitarism
238007004	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
429196001	Partial obstruction of small bowel
194118007	Partial oculomotor nerve palsy
3171005	Partial third nerve palsy
254268004	Partial trisomy 13 in Patau's syndrome
254266000	Partial trisomy 18 in Edward's syndrome
461386003	Patent arterial duct with normal origin and insertion
461397003	Patent arterial duct with normal origin and insertion and within normal period for functional closure
83330001	Patent ductus arteriosus
253686000	Patent ductus arteriosus - persisting type
125963005	Patent ductus arteriosus with left-to-right shunt
125964004	Patent ductus arteriosus with right-to-left shunt
204317008	Patent foramen ovale
461091006	Patent right arterial duct
398316009	Patent urachus
38774000	Pectus carinatum
391987005	Pectus excavatum
230682007	Penicillamine-induced myasthenia
204306007	Pentalogy of Fallot
460440005	Pericarditis with pericardial effusion due to Mycobacterium tuberculosis complex
206470003	Perinatal jaundice due to galactosemia
63607006	Perinatal pneumomediastinum
36078000	Perinatal pneumopericardium
415074004	Perineal hernia
341536001	Periodic hyperlysinemia
342553006	Periodic hyperlysinemia with hyperammonemia
198030008	periodic paralysis
304737009	Periodic paralysis II
275519006	Peripheral arteriovenous malformation
63168004	Peripheral congenital arteriovenous aneurysm
449916008	Peripheral facial palsy
403823001	Periungual fibroma in tuberous sclerosis
440059007	Persistent atrial fibrillation
206597007	Persistent fetal circulation
35604006	Persistent fetal circulation syndrome
66002008	Persistent hyperlysinemia
440009	Persistent hyperphenylalaninemia
40751003	Persistent hyperphenylalaninemia AND tyrosinemia
90575004	Persistent lanugo
77978002	Persistent left superior vena cava
193206003	Persistent neonatal myasthenia gravis
204318003	Persistent ostium secundum
233815004	Persistent pulmonary hypertension of the newborn
44602002	Persistent sinus bradycardia
249802001	Pes cavus
53633000	Peutz-Jeghers polyps of small bowel
54411001	Peutz-Jeghers syndrome
449826002	Phimosis
22841008	Phocomelia
253926000	Phocomelia of upper limb
14619009	Phoria
66266003	Phosphopenic type rickets
25362006	Phytanic acid storage disease
68222009	Pigmentary retinal dystrophy
76545008	Pilonidal cyst without abscess
33495006	Pinhole meatus
237701005	Pituitary apoplexy
367460001	Pituitary dwarfism
91187007	Pituitary dwarfism with small sella turcica
21850008	Plagiocephaly
86587003	Platybasia
7603007	Platyspondylia
79268002	POEMS syndrome
190808009	Polyclonal hypergammaglobulinemia
28728008	Polycystic kidney disease, adult type
28770003	Polycystic kidney disease, infantile type
367506006	Polydactyly
81793007	Polydactyly of fingers
62218008	Polydactyly of toes
56795008	Polyneuritis cranialis
36517007	Polyostotic fibrous dysplasia of bone
35547002	Polyotia
84598000	Polysyndactyly
81330005	Polysyndactyly syndrome
66783006	Popliteal pterygium syndrome
64081000	Porphobilinogen synthase deficiency
418470004	Porphyria
61860000	Porphyria cutanea tarda
402481000	Porphyria-induced scleroderma
403736007	Porphyria-like reaction to poison and/or environmental toxin
371628009	Porphyrinopathy
44574006	Porphyruria
403856000	Port-wine stain in proteus syndrome
403765001	Port-wine stain in Rubinstein-Taybi syndrome
416377005	Port-wine stain of skin
359743001	Postablative Hypoparathyroidism
72242008	Postductal coarctation of aorta
253680006	Postductal hypoplasia of aorta
277563003	Posterior buccal occlusion of mandibular teeth
230696001	Posterior cerebral circulation infarction
10816007	Posterior lingual occlusion of mandibular teeth
24617007	Posterior open bite
43363007	Posterior uveitis
190472002	Post-infarction panhypopituitarism
80969003	Postoperative kinking of ureter
197805009	Postoperative ureteric constriction
290653008	Postpartum hypopituitarism
190525000	Postprocedural adrenocortical (-medullary) hypofunction
190455009	Post-surgical Hypoparathyroidism
89392001	Prader-Willi syndrome
18820007	Preauricular cyst
204272007	Preauricular fistula
204271000	Preauricular sinus
204270004	Preauricular sinus and fistula
239148005	Preauricular sinus, pit or fistula
277872000	Precocious puberty with adrenal hyperplasia
13867009	Preductal coarctation of aorta
253674003	Preductal hypoplasia of aorta
284470004	Premature atrial contraction
29717002	Premature beats
123760002	Prepuberal panhypopituitarism
373662000	Primary adrenocortical insufficiency
89461002	Primary cardiomyopathy
23732000	Primary cerebellar degeneration
238088006	Primary combined hyperlipidemia
253742004	Primary congenital bronchomalacia
415176004	Primary congenital glaucoma
11352009	Primary cryoglobulinemia
195021004	Primary dilated cardiomyopathy
8239009	Primary endocardial fibroelastosis
68602002	Primary endomyocardial fibrosis cardiomyopathy
42099002	Primary endomyocardial fibrosis restrictive cardiomyopathy
33258008	Primary eosinophilic endomyocardial restrictive cardiomyopathy
403390002	Primary erythromelalgia
17901006	Primary hyperoxaluria
65520001	Primary hyperoxaluria, type I
40951006	Primary hyperoxaluria, type II
36348003	Primary hyperparathyroidism
238083002	Primary hypertriglyceridemia
53043001	Primary idiopathic dilated cardiomyopathy
64041007	Primary idiopathic restrictive cardiomyopathy (64041007)
190751001	Primary lactose intolerance
253543007	Primary left ventricular endocardial fibroelastosis
271572004	Primary microcephaly
402474007	Primary polygenic combined hyperlipidemia
90828009	Primary restrictive cardiomyopathy
22451001	Primary torsion dystonia
237837007	Primordial dwarfism
193732008	Profound impairment, one eye
31216003	Profound mental retardation (I.Q. below 20)
80328002	Progressive cone-rod dystrophy
302811004	Progressive congenital rubella encephalomyelitis
46252003	Progressive external ophthalmoplegia
254193007	Progressive junctional epidermolysis bullosa (neurotrophic)
193370005	Proliferative retinopathy due to sickle cell disease
61071003	Proline dehydrogenase deficiency
69080001	Propionic acidemia
399087009	Propionic acidemia, type I
399149003	Propionic acidemia, type II
205253000	Proximal radioulnar synostosis
5187006	Prune belly syndrome
236529001	Prune belly syndrome with pulmonic stenosis, mental retardation and deafness
237750004	Pseudohermaphrodite, female with adrenocortial disorder
75164001	Pseudohermaphroditism
65764006	Pseudo-Hurler polydystrophy
58976002	Pseudohypoparathyroidism
58833000	Pseudohypoparathyroidism type I A
56090007	Pseudohypoparathyroidism type I B
42183005	Pseudohypoparathyroidism type II
237659007	Pseudopseudohypoparathyroidism
198113009	Pubertal breast hypertrophy
415148007	Pudendal hernia
65794000	Pudendal hernia with gangrene
11142000	Pudendal hernia with obstruction
204443008	Pulmonary artery atresia
95441000	Pulmonary artery stenosis
448564004	Pulmonary atresia
28122003	Pulmonary eosinophilic granuloma
420289002	Pupil sparing third nerve palsy
95219002	Pure gonadal dysgenesis
95198001	Pure gonadal dysgenesis 46,XX
95218005	Pure gonadal dysgenesis 46,XY
230260007	Pure hereditary spastic paraplegia
267432004	Pure hypercholesterolemia
267433009	Pure hyperglyceridemia
60743005	Purine-nucleoside phosphorylase deficiency
37779008	Pyeloureteritis cystica
27837003	Pyle metaphyseal dysplasia
87694001	Pyruvate carboxylase deficiency
46683007	Pyruvate dehydrogenase complex deficiency
48721008	Quadriplegic cerebral palsy
371119007	Quadriplegic spastic cerebral palsy
205135003	Radial polydactyly
449774007	Radicular dens invaginatus
33313004	Radioulnar synostosis
205254006	Radioulnar synostosis and dislocation of radial head
314208002	Rapid atrial fibrillation
52859009	Rathke's pouch cyst
441854007	Reactivation of toxoplasmosis chorioretinitis
80736008	Rectal fistula
65619001	Rectovaginal fistula
71449000	Rectum to skin fistula
415251008	Recurrent hernia of anterior abdominal wall
415252001	Recurrent hernia of anterior abdominal wall with gangrene
415253006	Recurrent hernia of anterior abdominal wall with obstruction
67745001	Recurrent intestinal obstruction
415254000	Recurrent ventral incisional hernia
415255004	Recurrent ventral incisional hernia with gangrene
13164000	Reduced visual acuity
204032005	Reduction deformities of brain
249747008	Reduction deformity of arm
249780001	Reduction deformity of leg
77595004	Reduction deformity of lower limb
45806008	Reduction deformity of upper limb
39526006	Redundant prepuce
266570005	Redundant prepuce and phimosis
233893007	Re-entrant atrial tachycardia
233896004	Re-entrant atrioventricular node tachycardia
233897008	Re-entrant atrioventricular tachycardia
90927000	Refractive amblyopia
58672003	Reifenstein syndrome
204942005	Renal agenesis
204938007	Renal agenesis and dysgenesis
21764004	Renal carnitine transport defect
236367002	Renal diabetes
204949001	Renal dysplasia
86564006	Renal glycinuria, de Vries type
129594009	Renal glycinuria, Kaiser type
267430007	Renal glycosuria
204967008	Renal pelvis and ureter obstructive defects
191690004	Residual infantile autism
46775006	Respiratory distress syndrome in the newborn
415295002	Restrictive cardiomyopathy
33006007	Restrictive cardiomyopathy secondary to endocardial fibroelastosis
30884007	Restrictive cardiomyopathy secondary to familial storage disease
76931005	Restrictive cardiomyopathy secondary to granulomas
15544002	Restrictive cardiomyopathy secondary to infiltrations
24584003	Restrictive cardiomyopathy secondary to malignancy
39041004	Restrictive cardiomyopathy secondary to sarcoidosis
398754006	Restrictive cardiomyopathy with endomyocardial fibrosis
233877003	Restrictive cardiomyopathy without endomyocardial fibrosis
427777003	Restrictive lung disease due to muscular dystrophy
314407005	Retinal dystrophy
399463004	Retinitis
28835009	Retinitis pigmentosa
21779006	Retractile testis
87781009	Retroperitoneal hernia
196950000	Retroperitoneal hernia - irreducible
35423006	Retroperitoneal hernia with gangrene
4410001	Retroperitoneal hernia with obstruction
95238006	Reverse posterior crossbite
109497007	Reverse posterior crossbite, multiple teeth
109496003	Reverse posterior crossbite, single tooth
56692003	Rhizomelic chondrodysplasia punctata syndrome
204154009	Rieger eye malformation sequence
253455004	Right atrioventricular valve atresia
59118001	Right bundle branch block
30667004	Right bundle branch block AND left anterior fascicular block
46319007	Right bundle branch block AND left posterior fascicular block
38566003	Right bundle branch block, anterior fascicular block AND incomplete left bundle branch block
41863008	Right bundle branch block, anterior fascicular block AND incomplete posterior fascicular block
66568003	Right bundle branch block, posterior fascicular block AND incomplete anterior fascicular block (66568003)
14718009	Right bundle branch block, posterior fascicular block AND incomplete left bundle branch block
268180007	Right hypoplastic heart syndrome
448819009	Right-left orientation of bicuspid aortic valve
4602007	Robin sequence
20852007	Romano-Ward syndrome
69093006	Rothmund-Thomson syndrome
45853006	Roussy-Lévy syndrome
205168005	Rudimentary arm
63450009	Rufous albinism
46011003	Ruvalcaba-Myhre syndrome
95245006	Sacral hemivertebra
203951008	Sacral spina bifida with hydrocephalus - closed
203944004	Sacral spina bifida with hydrocephalus - open
204013004	Sacral spina bifida without hydrocephalus - closed
83015004	Saethre-Chotzen syndrome
254211001	Salmon patch nevus
276705000	Sampling injury to scalp during birth
23849003	Sandhoff disease
88393000	Sanfilippo syndrome
64852002	Sarcosine dehydrogenase deficiency
206203003	Scalp abrasions due to birth trauma
206204009	Scalp bruising due to birth trauma
206199003	Scalp injuries due to birth trauma
253159001	Schizencephaly
29145002	Schwartz-Jampel syndrome
414401005	Sciatic hernia
196942009	Sciatic hernia with gangrene
22406001	SCID due to absent lymphoid stem cells
39905002	Scimitar syndrome
448595006	Scimitar syndrome with additional anomalous pulmonary venous connection
195042002	Second degree atrioventricular block
281034005	Secondary amyloidosis
238089003	Secondary combined hyperlipidemia
253743009	Secondary congenital bronchomalacia
28807005	Secondary cryoglobulinemia
403391003	Secondary erythromelalgia
91478007	Secondary hyperparathyroidism
16685009	Secondary hypocortisolism
232114005	Secondary mechanical strabismus
253130001	Secondary microcephaly
7409003	Secondary periodic paralysis
402457007	Secondary systemic amyloidosis affecting skin (AA fibril type)
253138008	Semi-lobar holoprosencephaly
16573007	Senile cardiac amyloidosis
194424005	Sensorineural hearing loss, bilateral
47054003	Septate vagina
24867002	Severe adrenal insufficiency
31323000	Severe combined immunodeficiency disease
190998001	Severe combined immunodeficiency with low or normal B-cell numbers
190997006	Severe combined immunodeficiency with low T- and B-cell numbers
190996002	Severe combined immunodefiency with reticular dysgenesis
10564005	Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
77413008	Severe hereditary spherocytosis due to spectrin deficiency
40700009	Severe mental retardation (I.Q. 20-34)
49044005	Severe sinus bradycardia
46804001	Severe x-linked myotubular myopathy
254277006	Sex chromosome abnormality - female phenotype
254284003	Sex chromosome abnormality - male phenotype
237684005	Sheehan's syndrome
254050009	Short rib dysplasia
204741009	Short segment Hirschsprung's disease
95265004	Short supernumerary rib
83092002	Shprintzen syndrome
38795005	Sialidosis
36083008	Sick sinus syndrome
127045008	Sickle cell anemia with coexistent alpha-thalassemia
16402000	Sickle cell trait
127046009	Sickle cell trait with coexistent alpha-thalassemia
127042006	Sickle cell-beta^+^-thalassemia
127043001	Sickle cell-beta^0^-thalassemia
127041004	Sickle cell-beta-thalassemia
127044007	Sickle cell-delta beta^0^-thalassemia
35434009	Sickle cell-hemoglobin C disease
417517009	Sickle cell-hemoglobin C disease with crisis
25472008	Sickle cell-hemoglobin D disease
417748003	Sickle cell-hemoglobin D disease with crisis
416214006	Sickle cell-hemoglobin D disease without crisis
416484003	Sickle cell-hemoglobin E disease with crisis
416638004	Sickle cell-hemoglobin E disease without crisis
36472007	Sickle cell-thalassemia disease
416826005	Sickle cell-thalassemia disease with crisis
417048006	Sickle cell-thalassemia disease without crisis
417357006	Sickling disorder due to hemoglobin S
197060001	Sigmoid volvulus
24610009	Sigmoidorectal intussusception
24339001	Sigmoidovaginal fistula
422311004	Simple ectopia lentis
196929009	Simple lumbar hernia
204108000	Simple microphthalmos
196934008	Simple obturator hernia
196868003	Simple omphalocele
196939003	Simple pudendal hernia
196951001	Simple retroperitoneal hernia
196944005	Simple sciatic hernia
196958007	Simple Spigelian hernia
268251006	Simple syndactyly of fingers
205144002	Simple syndactyly of toes
204973009	Simple ureterocele
63070006	Single artery AND vein of umbilical cord
204067005	Single congenital cerebral cyst
169827000	Single stillbirth
204470001	Single umbilical artery
65778007	Sinoatrial block
49710005	Sinus bradycardia
60423000	Sinus node dysfunction
95268002	Sinus venosus atrial septal defect
68716001	Situs inversus abdominalis
70978004	Situs inversus thoracis
43876007	Situs inversus viscerum
205769006	Situs inversus with levocardia
40631009	Skew deviation
236053002	Sliding hiatus hernia
404686001	Slowed saccades
281255004	Small bowel obstruction
204691002	Small intestine atresia and stenosis
43929004	Smith-Lemli-Opitz syndrome
401315004	Smith-Magenis syndrome
86463003	Solitary multilocular renal cyst
278469000	Sound intensity-induced nystagmus
449792004	Spacing of anterior maxillary teeth
449787001	Spacing of posterior mandibular teeth
449786005	Spacing of posterior maxillary teeth
4275001	Spasm of conjugate gaze
230773005	Spastic cerebral palsy
281411007	Spastic diplegia
268162003	Specified optic disc anomalies
17235000	Spherocytosis
4465002	Spherophakia
238028008	Sphingolipidosis
58459009	Sphingomyelin/cholesterol lipidosis
290187002	Spigelian hernia
196955005	Spigelian hernia with gangrene
76916001	Spina bifida occulta
53318002	Spina bifida with hydrocephalus
203954000	Spina bifida with hydrocephalus of late onset
203955004	Spina bifida with stenosis of aqueduct of Sylvius
40130009	Spina bifida without hydrocephalus
253163008	Spinal arachnoid cyst
261482004	Spinal arteriovenous malformation
203978005	Spinal meningocele
205358006	Split foot
278713008	Spondyloepiphyseal dysplasia congenita
51952004	Spondyloepiphyseal dysplasia tarda
123714004	Spontaneous closure of ventricular septal defect
448201009	Spontaneous closure of ventricular septal defect due to accessory tissue of atrioventricular valve
447675006	Spontaneous closure of ventricular septal defect due to fibromuscular reaction
448411000	Spontaneous closure of ventricular septal defect due to prolapse of cusp of aortic valve
447942001	Spontaneous closure of ventricular septal defect due to tissue of membranous septum
253169007	Sporadic megalencephaly
402479002	Sporadic porphyria cutanea tarda
402473001	Sporadic primary hypertriglyceridemia
77956009	Steinert myotonic dystrophy syndrome
23065003	Stenosis of intestine
197216007	Stenosis of rectum and anus
54008006	Sternum bifidum
71578002	Steroid 21-monooxygenase deficiency, salt wasting type
52604008	Steroid 21-monooxygenase deficiency, simple verilizing type
26715006	Steroid-induced myopathy
237364002	Stillbirth
193638002	Stimulus deprivation amblyopia
271547004	Stokes-Adams attack
46935006	Stokes-Adams syndrome
13620007	Stokes-Adams-Morgagni syndrome
3272007	Stomatocytosis
35600002	Strabismic amblyopia
22066006	Strabismus
111532006	Strabismus neuromuscular disorder
236036009	Strangulated epigastric hernia
415594002	Strangulated hernia of anterior abdominal wall
415595001	Strangulated ventral incisional hernia
41585009	Strangulation of colon
56975005	Strawberry nevus of skin
69914001	Stricture of anus
56226004	Stricture of intestine
19886006	Sturge-Weber syndrome
5963005	Subacute neuronopathic Gaucher's disease
403217003	Subcorneal pustular dermatosis with paraproteinemia
204456001	Subdiaphragmatic total anomalous pulmonary venous return
78373000	Sucrase-isomaltase deficiency
190753003	Sucrose intolerance
404690004	Superior division third nerve palsy
236044009	Superior lumbar hernia
367534004	Supernumerary tooth
87294007	Supernumerary vertebra
204457005	Supradiaphragmatic total anomalous pulmonary venous return
11045000	Supranuclear facial nerve paralysis
72654001	Supraventricular arrhythmia
63593006	Supraventricular premature beats
6456007	Supraventricular tachycardia
233900001	Supraventricular tachycardia with functional bundle branch block
237154001	Suspect fetal anencephaly
237148002	Suspect fetal damage from maternal toxoplasmosis
5423000	Suspected damage to fetus from maternal toxoplasmosis
429243003	Sustained ventricular fibrillation
426525004	Sustained ventricular tachycardia
444605001	Symptomatic sinus bradycardia
373413006	Syndactyly
34048007	Syndactyly of fingers
2560006	Syndactyly of fingers with fusion of bones
32113001	Syndactyly of toes
38859008	Syndactyly of toes with fusion of bones
44568006	Syphilitic interstitial keratitis
95408003	Systemic lupus erythematosus arthritis
95644001	Systemic lupus erythematosus encephalitis
74615001	Tachycardia-bradycardia
398309008	Talipes
31668003	Talipes calcaneovalgus
30449003	Talipes calcaneovarus
33494005	Talipes calcaneus
68284008	Talipes equinovalgus
397932003	Talipes equinovarus
10989008	Talipes equinus
68557006	Talipes planovalgus
79807003	Talipes valgus
16603000	Talipomanus
27173008	Tarsal coalitions
111385000	Tay-Sachs disease
71253000	Tay-Sachs disease, variant AB
8004003	Teething syndrome
237920001	Temperature-sensitive oculocutaneous albinism
41888000	Temporomandibular joint disorder
78200003	Tertiary hyperparathyroidism
52832001	Testicular feminization
29206004	Testicular hyperfunction
111551000	Testicular hypofunction
68724006	Tetrahydrobiopterin synthesis defect
86299006	Tetralogy of Fallot
399228007	Tetralogy of Fallot with absent pulmonary valve
253513005	Tetralogy of Fallot with pulmonary atresia
253512000	Tetralogy of Fallot with pulmonary stenosis
40108008	Thalassemia
75451007	Thalassemia major
84188003	Thalassemia syndrome
29352008	Thanatophoric dysplasia
389157002	Thanatophoric dysplasia, type 1
389158007	Thanatophoric dysplasia, type 2
31368008	Thiamin-responsive maple syrup urine disease
95304000	Thoracic hemivertebra
205430004	Thoracic hemivertebra - unbalanced
205429009	Thoracic hemivertebra- balanced
203935000	Thoracic spina bifida with hydrocephalus
203949009	Thoracic spina bifida with hydrocephalus - closed
203942000	Thoracic spina bifida with hydrocephalus - open
204004001	Thoracic spina bifida without hydrocephalus - open
203981000	Thoracic spinal meningocele
458042009	Thoracopagus with conjoined atria
458043004	Thoracopagus with conjoined atria and ventricles
458041002	Thoracopagus with separate hearts and common pericardial sac
458040001	Thoracopagus with separate hearts and pericardial sacs
6631009	Thrombocytosis
190995003	Thymic aplasia or dysplasia with immunodeficiency
39462005	Thyroglossal duct cyst
30967002	Thyrotoxic periodic paralysis
198006006	Tight foreskin
67787004	Tongue tie
266413002	Tooth development and eruption disorder
234949000	Tooth eruption disorder
41679006	TORCH syndrome
31722008	Torsades de pointes
431034009	Torsion dystonia
307678007	Torsional central vestibular nystagmus
204130004	Total and subtotal congenital cataract
16958000	Total anodontia of permanent and deciduous teeth
410067007	Total anodontia of permanent dentition
111323005	Total anomalous pulmonary venous return
253780003	Total colonic aganglionosis
311671002	Total congenital alopecia
204297006	Total great vessel transposition
238020001	Total hexosaminidase deficiency - adult
238018004	Total hexosaminidase deficiency - infantile
238019007	Total hexosaminidase deficiency - juvenile
204745000	Total intestinal aganglionosis
194119004	Total oculomotor nerve palsy
78097002	Total ophthalmoplegia
85522003	Total third nerve palsy
253732001	Totally absent pericardium
66952001	Toxic myopathy
17940001	Toxic neuromuscular junction disorder
192701001	Toxoplasma encephalitis
187197006	Toxoplasma hepatitis
187195003	Toxoplasma myocarditis
416913007	Toxoplasma neuroretinitis
187196002	Toxoplasma pneumonitis
416589006	Toxoplasma retinitis
187194004	Toxoplasmosis chorioretinitis
28575006	Transient hyperphenylalaninemia
449777000	Transient infantile osteopetrosis
276517000	Transient myocardial ischemia of newborn
371045000	Translocation Down syndrome
36422005	Transposition of pulmonary veins
278532000	Transverse deficiency lower limb - knee level
36574005	Transverse deficiency of lower limb
3699000	Transverse deficiency of upper limb
423582009	Traumatic arachnoid cyst
425576009	Traumatic cyst of leptomeninges
236059003	Traumatic diaphragmatic hernia
82203000	Treacher Collins syndrome
86014007	Trifascicular block
253862000	Trifid kidney
59758007	Trifid pelvis of kidney
19604005	Triglyceride storage disease with ichthyosis
28740008	Trigonocephaly
237959005	Trimethylaminuria
205620000	Trisomy 13 - mitotic nondisjunction mosaicism
205619006	Trisomy 13, meiotic nondisjunction
205623003	Trisomy 18 - meiotic nondisjunction
205624009	Trisomy 18 - mitotic nondisjunction mosaicism
205655003	Trisomy 22
35111009	Trisomy X syndrome
185797004	True dwarfism
59531002	Tryptophan malabsorption syndrome
7199000	Tuberous sclerosis syndrome
238954002	Tuberous xanthoma
253614008	Tubular hypoplasia of aorta
279919005	Tubule of epoophoron
38804009	Turner syndrome
205684007	Turner's phenotype, karyotype normal
205688005	Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY
10078003	Turner's tooth
169829002	Twins, one liveborn and one stillborn
15190000	Tympanic membrane conductive hearing loss
253147000	Type 1 lissencephaly
253149002	Type 2 lissencephaly
6483008	Tyrosinase-negative oculocutaneous albinism
26336006	Tyrosinase-positive oculocutaneous albinism
8849004	UDPglucose-4-epimerase deficiency
400126005	Ulerythema ophryogenes
67508005	Umbilical hernia with gangrene
9822005	Umbilical hernia with gangrene AND obstruction
7544003	Umbilical hernia without obstruction AND without gangrene
297235006	Unclassified 3-methylglutaconic aciduria
266443000	Uncomplicated epigastric hernia
268228006	Undescended testes - bilateral
204878001	Undescended testicle
55726006	Unilateral agenesis of kidney
253985003	Unilateral cleft hard palate
204621006	Unilateral cleft hard palate with cleft lip
304067009	Unilateral cleft lip
62696001	Unilateral complete cleft lip
253988001	Unilateral complete cleft lip and/or alveolus
20729004	Unilateral complete cleft palate
204612005	Unilateral complete cleft palate with cleft lip
442535004	Unilateral conductive hearing loss
194418004	Unilateral conductive hearing loss with unrestricted hearing on the contralateral side
33543001	Unilateral congenital dislocation of hip
24609004	Unilateral femoral hernia with gangrene
29450001	Unilateral femoral hernia with gangrene AND obstruction
38897008	Unilateral femoral hernia with obstruction but no gangrene
60016005	Unilateral femoral hernia without obstruction AND without gangrene
3267003	Unilateral incomplete cleft lip
253987006	Unilateral incomplete cleft lip and/or alveolus
44442002	Unilateral incomplete cleft palate
204613000	Unilateral incomplete cleft palate with cleft lip
52278004	Unilateral inguinal hernia
31518001	Unilateral inguinal hernia with gangrene
11363007	Unilateral inguinal hernia with gangrene AND obstruction
55993003	Unilateral inguinal hernia with obstruction but no gangrene
425601005	Unilateral neural hearing loss
62232005	Unilateral recurrent femoral hernia with gangrene
90232009	Unilateral recurrent femoral hernia with gangrene AND obstruction
90075008	Unilateral recurrent femoral hernia with obstruction but no gangrene
1296007	Unilateral recurrent femoral hernia without obstruction AND without gangrene
62120000	Unilateral recurrent inguinal hernia
75584009	Unilateral recurrent inguinal hernia with gangrene
52018002	Unilateral recurrent inguinal hernia with gangrene AND obstruction
18253009	Unilateral recurrent inguinal hernia with obstruction but no gangrene
196817001	Unilateral recurrent simple inguinal hernia
253863005	Unilateral renal agenesis with contralateral hypoplasia or dysplasia
204951002	Unilateral renal dysplasia
204948009	Unilateral renal hypoplasia
194425006	Unilateral sensorineural hearing loss with unrestricted hearing on the contralateral side
425980006	Unilateral sensory hearing loss
266441003	Unilateral simple inguinal hernia
268227001	Unilateral undescended testis
52159006	Universal mesentery
236612006	Ureteric fistula to cervix
111405003	Ureteritis
37532005	Ureterovaginal fistula
204998005	Urethra and bladder neck atresia and stenosis
14981000	Urethral fistula
15165002	Urethrorectal fistula
7350007	Urethrovesical fistula
20913004	Urethrovesicovaginal fistula
7163005	Urinary tract obstruction
78745000	Urticaria pigmentosa
34739009	Urticaria pigmentosa, adult form
76621000	Urticaria pigmentosa, infantile form
79564001	Urticaria pigmentosa, maculopapular type
46332002	Urticaria pigmentosa, multiple nodules AND/OR plaques
248912003	Uterine cervix double
87553000	Uteroureteric fistula
38437003	Uterus arcuatus
123665003	Uterus bicornis unicollis with septate vagina
22504001	Uterus bilocularis
1372004	Uterus unicornis
206201001	Vacuum extraction chignon
473006003	Vagal autonomic bradycardia of prematurity
398061002	Vaginal enterocele
248877004	Vaginal septum
58275005	Variegate porphyria
66403007	Vascular ring of aorta
448517004	Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery
448303009	Vascular ring with left aortic arch to right descending aorta and right arterial ligament
448304003	Vascular ring with left aortic arch to right descending aorta and right patent arterial duct
448305002	Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct
460906001	Vascular ring with mirror image branching of right aortic arch and left arterial ligament
460593008	Vascular ring with right aortic arch and left arterial duct from anomalous retroesophageal brachiocephalic artery
460591005	Vascular ring with right aortic arch and left arterial duct from anomalous retroesophageal left subclavian artery
460594002	Vascular ring with right aortic arch and left arterial duct from retroesophageal diverticulum of aorta
460592003	Vascular ring with right aortic arch and left arterial duct from retroesophageal diverticulum of aorta and anomalous left subclavian artery
450315001	Vascular ring with right aortic arch and left arterial ligament
460589002	Vascular ring with right aortic arch and left arterial ligament between left subclavian artery and left common carotid artery
460590006	Vascular ring with right aortic arch and left arterial ligament with anomalous retroesophageal left subclavian artery
450314002	Vascular ring with right aortic arch and left patent arterial duct
448078006	Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery
448079003	Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery
27742002	VATER association
414477008	Ventral incisional hernia of anterior abdominal wall without obstruction AND without gangrene
44103008	Ventricular arrhythmia
71908006	Ventricular fibrillation
195083004	Ventricular fibrillation and flutter
111288001	Ventricular flutter
17338001	Ventricular premature beats
251175005	Ventricular premature complex
253549006	Ventricular septal abnormality
30288003	Ventricular septal defect
204312002	Ventricular septal defect between left ventricle and right atrium
253515003	Ventricular septal defect in Fallot's tetralogy
25569003	Ventricular tachycardia
251158004	Ventricular tachycardia, monomorphic
251159007	Ventricular tachycardia, polymorphic
251160002	Ventricular tachycardia, polymorphic without Q-T prolongation
20636006	Vertical heterophoria
237997005	Very long chain acyl-CoA dehydrogenase deficiency
14568003	Vesicocervicovaginal fistula
28626004	Vesicocolic fistula
28321004	Vesicocutaneous fistula
68301001	Vesicorectal fistula
89405008	Vesicovaginal fistula
237749004	Virilization-adrenogenital syndrome
45339001	Visual deprivation nystagmus
397540003	Visual impairment
79556007	Vitreoretinal dystrophy
6441003	Volvulus of colon
46659004	Von Hippel-Lindau syndrome
128105004	von Willebrand disorder
47434006	Waardenburg's syndrome
190818004	Waldenström macroglobulinemia
111504002	Walker-Warburg congenital muscular dystrophy
195101003	Wandering atrial pacemaker
406462006	Wandering pacemaker
249769001	Webbed fingers
64383006	Werdnig-Hoffmann disease
240060004	Western type of congenital muscular dystrophy
51577008	Wilson-Mikity syndrome
403837005	Wiskott-Aldrich autosomal dominant variant syndrome
36070007	Wiskott-Aldrich syndrome
206573003	Withdrawal symptoms from therapeutic use of drugs in newborn
74390002	Wolff-Parkinson-White pattern
190919008	Xanthinuria
238074007	Xanthoma, familial
44600005	Xeroderma pigmentosum
43477006	Xeroderma pigmentosum, group A
1073003	Xeroderma pigmentosum, group B
25784009	Xeroderma pigmentosum, group C
68637004	Xeroderma pigmentosum, group D
56048001	Xeroderma pigmentosum, group E
42530008	Xeroderma pigmentosum, group F
36454001	Xeroderma pigmentosum, group G
88877002	Xeroderma pigmentosum, variant form
24297000	Xiphopagus
403778001	X-linked dominant chondrodysplasia punctata of Happle
72523005	X-linked ichthyosis with steryl-sulfatase deficiency
402771003	X-linked recessive ichthyosis
7037003	XTE syndrome
82342003	Yellow mutant oculocutaneous albinism
88469006	Zellweger syndrome
238064009	Zellweger's-like syndrome