Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
resourceType | ValueSet |
id | 2.16.840.1.113883.3.666.5.1671 |
canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.666.5.1671 |
version | 20160331 |
status | active |
publisher | Lantana EH Steward |
name | CongenitalAnomaliesS |
title | Congenital Anomalies S |
date | 2016-03-31T01:00:12-04:00 |
experimental | false |
Usages |
|
This value set contains 801 concepts
Code | System | Display |
10007009 | http://snomed.info/sct | Coffin-Siris syndrome (disorder) |
10177005 | http://snomed.info/sct | Triploidy, diploidy, mixoploidy syndrome (disorder) |
105992002 | http://snomed.info/sct | Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder) |
10631000 | http://snomed.info/sct | Trilobed left lung (disorder) |
10818008 | http://snomed.info/sct | Congenital malposition of heart (disorder) |
10930001 | http://snomed.info/sct | Congenital atresia of pulmonary artery (disorder) |
109440005 | http://snomed.info/sct | False anodontia (disorder) |
109442002 | http://snomed.info/sct | Congenital absence of one tooth (disorder) |
109443007 | http://snomed.info/sct | Anodontia of primary dentition (disorder) |
109444001 | http://snomed.info/sct | Anodontia of permanent dentition (disorder) |
109546001 | http://snomed.info/sct | Cleft of primary palate (disorder) |
109548000 | http://snomed.info/sct | Bilateral cleft of primary palate (disorder) |
109552000 | http://snomed.info/sct | Buccal bifurcation cyst (disorder) |
111310003 | http://snomed.info/sct | Ring chromosome 11 syndrome (disorder) |
111312006 | http://snomed.info/sct | Anomaly of chromosome X (disorder) |
111322000 | http://snomed.info/sct | Congenital anomaly of pulmonary veins (disorder) |
111328001 | http://snomed.info/sct | Congenital diverticulum of pharynx (disorder) |
111337001 | http://snomed.info/sct | Dyke-Davidoff-Masson syndrome (disorder) |
111338006 | http://snomed.info/sct | Agenesis of nerve (disorder) |
11164009 | http://snomed.info/sct | Autosomal dominant hereditary disorder (disorder) |
11223009 | http://snomed.info/sct | Congenital anomaly of pharynx (disorder) |
11433004 | http://snomed.info/sct | Congenital coronary artery fistula (disorder) |
11614003 | http://snomed.info/sct | Congenital stenosis of pulmonary veins (disorder) |
118642009 | http://snomed.info/sct | Congenital anomaly of the urinary tract proper (disorder) |
12070002 | http://snomed.info/sct | Congenital stenosis of larynx (disorder) |
1232006 | http://snomed.info/sct | Congenital articular rigidity with myopathy (disorder) |
12322003 | http://snomed.info/sct | Congenital eventration of left crus of diaphragm (disorder) |
123644009 | http://snomed.info/sct | Gynandromorphism syndrome (disorder) |
123645005 | http://snomed.info/sct | Group chromosomal alteration (disorder) |
123646006 | http://snomed.info/sct | Chromosomal alterations of group A (disorder) |
123647002 | http://snomed.info/sct | Chromosomal alterations of group B (disorder) |
123648007 | http://snomed.info/sct | Chromosomal alterations of group C and X (disorder) |
123649004 | http://snomed.info/sct | Chromosomal alterations of group D (disorder) |
123650004 | http://snomed.info/sct | Chromosomal alterations of group E (disorder) |
123651000 | http://snomed.info/sct | Chromosomal alterations of group F (disorder) |
123652007 | http://snomed.info/sct | Chromosomal alterations of group G and Y (disorder) |
123654008 | http://snomed.info/sct | Congenital anomaly of lower respiratory system (disorder) |
123655009 | http://snomed.info/sct | Accessory structure of lower respiratory tract (disorder) |
123657001 | http://snomed.info/sct | Congenital stenosis of cardiac valve (disorder) |
123660008 | http://snomed.info/sct | Dextrorotation of heart (disorder) |
125237007 | http://snomed.info/sct | Anomalous venous connection, partial (morphologic abnormality) |
125238002 | http://snomed.info/sct | Anomalous venous connection, complete (morphologic abnormality) |
127329003 | http://snomed.info/sct | Congenital anomaly of visual system (disorder) |
128124001 | http://snomed.info/sct | Congenital anomaly of central nervous system (disorder) |
128275006 | http://snomed.info/sct | Congenital anomaly of nasal sinuses (disorder) |
128334002 | http://snomed.info/sct | Congenital anomaly of mouth (disorder) |
128335001 | http://snomed.info/sct | Congenital anomaly of duodenum (disorder) |
128347007 | http://snomed.info/sct | Congenital anomaly of gastrointestinal tract (disorder) |
128534003 | http://snomed.info/sct | Congenital anomaly of posterior segment of eye (disorder) |
128566008 | http://snomed.info/sct | Congenital pulmonary vein confluence (disorder) |
128567004 | http://snomed.info/sct | Congenital pulmonary venous atrium (disorder) |
128568009 | http://snomed.info/sct | Congenital systemic venous atrium (disorder) |
128584005 | http://snomed.info/sct | Congenital pulmonary artery conduit (disorder) |
128585006 | http://snomed.info/sct | Anomalous pulmonary vein (morphologic abnormality) |
128589000 | http://snomed.info/sct | Systemic collateral artery to lung (morphologic abnormality) |
129582000 | http://snomed.info/sct | Congenital coronary artery fistula to pulmonary artery (disorder) |
13059002 | http://snomed.info/sct | Congenital ichthyosis of skin (disorder) |
13213009 | http://snomed.info/sct | Congenital heart disease (disorder) |
13530005 | http://snomed.info/sct | Congenital lobulation of kidney (disorder) |
13555004 | http://snomed.info/sct | Ring chromosome 22 syndrome (disorder) |
13568007 | http://snomed.info/sct | Congenital duplication of stomach (disorder) |
13671009 | http://snomed.info/sct | Congenital stricture of urethra (disorder) |
13674001 | http://snomed.info/sct | Anomaly of chromosome pair 3 (disorder) |
13806003 | http://snomed.info/sct | Congenital anomaly of urethra (disorder) |
14482000 | http://snomed.info/sct | Anomalous origin of right subclavian artery (disorder) |
14532008 | http://snomed.info/sct | Congenital anomaly of trachea (disorder) |
14582003 | http://snomed.info/sct | Microstomia (disorder) |
15135007 | http://snomed.info/sct | Congenital transposition of stomach (disorder) |
15182000 | http://snomed.info/sct | Coffin-Lowry syndrome (disorder) |
1519002 | http://snomed.info/sct | Congenital phlebectasia (disorder) |
1538006 | http://snomed.info/sct | Central nervous system malformation in fetus affecting obstetrical care (disorder) |
15419008 | http://snomed.info/sct | Congenital pyloric membrane (disorder) |
15671007 | http://snomed.info/sct | Encephalocele of orbit (disorder) |
15788006 | http://snomed.info/sct | Congenital cleft thyroid cartilage (disorder) |
15841002 | http://snomed.info/sct | 21q partial monosomy syndrome (disorder) |
16129004 | http://snomed.info/sct | 10q partial monosomy (disorder) |
16376000 | http://snomed.info/sct | Congenital duodenal stenosis (disorder) |
16507009 | http://snomed.info/sct | Ectopic kidney (disorder) |
16569009 | http://snomed.info/sct | Anomaly of chromosome pair 15 (disorder) |
16603000 | http://snomed.info/sct | Talipomanus (disorder) |
17318002 | http://snomed.info/sct | Virilizing syndrome of adrenal origin (disorder) |
17760001 | http://snomed.info/sct | Anomaly of chromosome pair 13 (disorder) |
18465005 | http://snomed.info/sct | Anomalous origin of vein (morphologic abnormality) |
18546004 | http://snomed.info/sct | Congenital stenosis of aortic valve (disorder) |
18620009 | http://snomed.info/sct | Congenital sequestration of lung (disorder) |
18910001 | http://snomed.info/sct | Cleft uvula (disorder) |
190512008 | http://snomed.info/sct | Acquired adrenogenital syndrome (disorder) |
1922008 | http://snomed.info/sct | Congenital absence of urethra (disorder) |
19276002 | http://snomed.info/sct | Congenital cerebral cyst (disorder) |
192894009 | http://snomed.info/sct | Syringomyelia and syringobulbia (disorder) |
19346006 | http://snomed.info/sct | Marfan's syndrome (disorder) |
19416009 | http://snomed.info/sct | Congenital anomaly of eye (disorder) |
19419002 | http://snomed.info/sct | 8p partial monosomy syndrome (disorder) |
19550003 | http://snomed.info/sct | 22q partial monosomy (disorder) |
19886006 | http://snomed.info/sct | Sturge-Weber syndrome (disorder) |
199879009 | http://snomed.info/sct | Congenital anomaly of skin (disorder) |
203934001 | http://snomed.info/sct | Cervical spina bifida with hydrocephalus (disorder) |
203935000 | http://snomed.info/sct | Thoracic spina bifida with hydrocephalus (disorder) |
203936004 | http://snomed.info/sct | Lumbar spina bifida with hydrocephalus (disorder) |
203941007 | http://snomed.info/sct | Cervical spina bifida with hydrocephalus - open (disorder) |
203942000 | http://snomed.info/sct | Thoracic spina bifida with hydrocephalus - open (disorder) |
203943005 | http://snomed.info/sct | Lumbar spina bifida with hydrocephalus - open (disorder) |
203944004 | http://snomed.info/sct | Sacral spina bifida with hydrocephalus - open (disorder) |
203946002 | http://snomed.info/sct | Spina bifida with hydrocephalus - closed (disorder) |
203948001 | http://snomed.info/sct | Cervical spina bifida with hydrocephalus - closed (disorder) |
203949009 | http://snomed.info/sct | Thoracic spina bifida with hydrocephalus - closed (disorder) |
203950009 | http://snomed.info/sct | Lumbar spina bifida with hydrocephalus - closed (disorder) |
203951008 | http://snomed.info/sct | Sacral spina bifida with hydrocephalus - closed (disorder) |
203954000 | http://snomed.info/sct | Spina bifida with hydrocephalus of late onset (disorder) |
203955004 | http://snomed.info/sct | Spina bifida with stenosis of aqueduct of Sylvius (disorder) |
203980004 | http://snomed.info/sct | Cervical spinal meningocele (disorder) |
203981000 | http://snomed.info/sct | Thoracic spinal meningocele (disorder) |
203982007 | http://snomed.info/sct | Lumbar spinal meningocele (disorder) |
203994003 | http://snomed.info/sct | Myelocystocele (disorder) |
203996001 | http://snomed.info/sct | Cervical myelocystocele (disorder) |
203997005 | http://snomed.info/sct | Thoracic myelocystocele (disorder) |
203998000 | http://snomed.info/sct | Lumbar myelocystocele (disorder) |
204003007 | http://snomed.info/sct | Cervical spina bifida without hydrocephalus - open (disorder) |
204004001 | http://snomed.info/sct | Thoracic spina bifida without hydrocephalus - open (disorder) |
204005000 | http://snomed.info/sct | Lumbar spina bifida without hydrocephalus - open (disorder) |
204006004 | http://snomed.info/sct | Sacral spina bifida without hydrocephalus - open (disorder) |
204008003 | http://snomed.info/sct | Spina bifida without hydrocephalus - closed (disorder) |
204010001 | http://snomed.info/sct | Cervical spina bifida without hydrocephalus - closed (disorder) |
204011002 | http://snomed.info/sct | Thoracic spina bifida without hydrocephalus - closed (disorder) |
204012009 | http://snomed.info/sct | Lumbar spina bifida without hydrocephalus - closed (disorder) |
204013004 | http://snomed.info/sct | Sacral spina bifida without hydrocephalus - closed (disorder) |
204021005 | http://snomed.info/sct | Encephalomyelocele (disorder) |
204036008 | http://snomed.info/sct | Lissencephaly (disorder) |
204042007 | http://snomed.info/sct | Congenital malformation of corpus callosum (disorder) |
204044008 | http://snomed.info/sct | Aplasia of corpus callosum (disorder) |
204049003 | http://snomed.info/sct | Aplasia of cerebellum (disorder) |
204061006 | http://snomed.info/sct | Foramen of Magendie atresia (disorder) |
204062004 | http://snomed.info/sct | Foramen of Luschka atresia (disorder) |
204074000 | http://snomed.info/sct | Multiple brain anomalies (disorder) |
204196008 | http://snomed.info/sct | Congenital anomalies of eyelid, lacrimal system and orbit (disorder) |
204216001 | http://snomed.info/sct | Multiple supernumerary eye muscles (disorder) |
204217005 | http://snomed.info/sct | Hypoplasia of eye muscle (disorder) |
204342004 | http://snomed.info/sct | Congenital atresia of the pulmonary valve (disorder) |
204423002 | http://snomed.info/sct | Anomalous origin of the aortic arch (disorder) |
204448004 | http://snomed.info/sct | Atresia of pulmonary artery with septal defect (disorder) |
204467000 | http://snomed.info/sct | Pulmonary vein atresia (disorder) |
204524005 | http://snomed.info/sct | Congenital perforation of the nasal sinus wall (disorder) |
204535000 | http://snomed.info/sct | Agenesis of larynx (disorder) |
204544004 | http://snomed.info/sct | Atresia of larynx and trachea (disorder) |
204550009 | http://snomed.info/sct | Congenital stenosis of larynx, trachea and bronchus (disorder) |
204551008 | http://snomed.info/sct | Congenital bronchial stenosis (disorder) |
204557007 | http://snomed.info/sct | Congenital fissure of epiglottis (disorder) |
204558002 | http://snomed.info/sct | Congenital cleft of posterior cricoid cartilage (disorder) |
204614006 | http://snomed.info/sct | Bilateral complete cleft palate with cleft lip (disorder) |
204616008 | http://snomed.info/sct | Central complete cleft palate with cleft lip (disorder) |
204617004 | http://snomed.info/sct | Central incomplete cleft palate with cleft lip (disorder) |
204620007 | http://snomed.info/sct | Cleft hard palate with cleft lip, bilateral (disorder) |
204630003 | http://snomed.info/sct | Cleft tongue (disorder) |
204642008 | http://snomed.info/sct | Congenital pharyngeal polyp (disorder) |
204652007 | http://snomed.info/sct | Congenital esophageal fistula (disorder) |
204676004 | http://snomed.info/sct | Ectopic gastric mucosa (disorder) |
204695006 | http://snomed.info/sct | Congenital absence of duodenum (disorder) |
204849002 | http://snomed.info/sct | Congenital uterovesical fistula (disorder) |
204938007 | http://snomed.info/sct | Renal agenesis and dysgenesis (disorder) |
204941003 | http://snomed.info/sct | Congenital renal atrophy (disorder) |
204942005 | http://snomed.info/sct | Renal agenesis (disorder) |
204949001 | http://snomed.info/sct | Renal dysplasia (disorder) |
204967008 | http://snomed.info/sct | Renal pelvis and ureter obstructive defects (disorder) |
204984002 | http://snomed.info/sct | Fusion of kidneys (disorder) |
205022009 | http://snomed.info/sct | Congenital bladder hernia (disorder) |
205083002 | http://snomed.info/sct | Congenital talipes calcaneovalgus (disorder) |
205091006 | http://snomed.info/sct | Congenital pes cavus (disorder) |
205092004 | http://snomed.info/sct | Congenital claw foot (disorder) |
205097005 | http://snomed.info/sct | Congenital talipes equinus (disorder) |
205132000 | http://snomed.info/sct | Preaxial polydactyly of toe (disorder) |
205133005 | http://snomed.info/sct | Postaxial polydactyly of toe (disorder) |
205161004 | http://snomed.info/sct | Congenital amputation of upper limb (disorder) |
205264002 | http://snomed.info/sct | Cleft hand - first cleft (disorder) |
205265001 | http://snomed.info/sct | Cleft hand - central (disorder) |
205266000 | http://snomed.info/sct | Cleft hand with syndactyly (disorder) |
205267009 | http://snomed.info/sct | Cleft hand with polydactyly (disorder) |
205269007 | http://snomed.info/sct | Windblown hand (disorder) |
205273005 | http://snomed.info/sct | Thumb in palm deformity (disorder) |
205297001 | http://snomed.info/sct | Undergrowth of whole hand (disorder) |
205304002 | http://snomed.info/sct | Constriction ring of upper limb with acrosyndactyly and amputation (disorder) |
205306000 | http://snomed.info/sct | Congenital complete absence of upper limb (disorder) |
205347002 | http://snomed.info/sct | Congenital crossed toes (disorder) |
205348007 | http://snomed.info/sct | Congenital curly toes (disorder) |
205354008 | http://snomed.info/sct | Triphalangeal great toe (disorder) |
205364004 | http://snomed.info/sct | Failure of soft tissue differentiation of lower limb (disorder) |
205369009 | http://snomed.info/sct | Congenital overgrowth of lower limb (disorder) |
205385004 | http://snomed.info/sct | Constriction ring of lower limb with lymphedema (disorder) |
205387007 | http://snomed.info/sct | Constriction ring syndrome of lower limb with amputation (disorder) |
205425003 | http://snomed.info/sct | Sacral agenesis (disorder) |
205548006 | http://snomed.info/sct | Harlequin ichthyosis (disorder) |
205550003 | http://snomed.info/sct | Lamellar ichthyosis (disorder) |
205627002 | http://snomed.info/sct | Monosomy and deletion from autosome (disorder) |
205630009 | http://snomed.info/sct | Deletion of long arm of chromosome 13 (disorder) |
205634000 | http://snomed.info/sct | Deletion seen only at prometaphase (disorder) |
205636003 | http://snomed.info/sct | Whole chromosome monosomy - meiotic nondisjunction (disorder) |
205638002 | http://snomed.info/sct | Monosomy 21, mosaicism (disorder) |
205665009 | http://snomed.info/sct | Duplication seen only at prometaphase (disorder) |
205666005 | http://snomed.info/sct | Duplication with other complex rearrangement (disorder) |
205705003 | http://snomed.info/sct | Additional sex chromosome (disorder) |
205706002 | http://snomed.info/sct | Sex chromosome mosaicism (disorder) |
205819008 | http://snomed.info/sct | Multiple pterygium syndrome (disorder) |
205835001 | http://snomed.info/sct | Acephalobrachius (disorder) |
205836000 | http://snomed.info/sct | Acephalogaster (disorder) |
20815007 | http://snomed.info/sct | Exstrophy of cloaca sequence (disorder) |
21086008 | http://snomed.info/sct | Cockayne syndrome (disorder) |
21634003 | http://snomed.info/sct | Borjeson-Forssman-Lehmann syndrome (disorder) |
2213002 | http://snomed.info/sct | Congenital anomaly of vena cava (disorder) |
22133005 | http://snomed.info/sct | Congenital anomaly of the peripheral nervous system (disorder) |
2229005 | http://snomed.info/sct | Chimera (disorder) |
22421007 | http://snomed.info/sct | Congenital absence of bladder (disorder) |
22589009 | http://snomed.info/sct | Congenital absence of salivary gland (disorder) |
23024003 | http://snomed.info/sct | Macrogyria (disorder) |
230561007 | http://snomed.info/sct | Congenital neuropathy with arthrogryposis multiplex congenita (disorder) |
230562000 | http://snomed.info/sct | Congenital hypomyelinating neuropathy (disorder) |
23063005 | http://snomed.info/sct | Congenital atresia of mitral valve (disorder) |
230779009 | http://snomed.info/sct | Congenital spastic foot (disorder) |
230794008 | http://snomed.info/sct | Neuronal choristoma (disorder) |
233718008 | http://snomed.info/sct | Pulmonary tuberous sclerosis (disorder) |
233779005 | http://snomed.info/sct | Congenital tracheal fistula (disorder) |
234035006 | http://snomed.info/sct | Marfan's syndrome affecting skin (disorder) |
234118009 | http://snomed.info/sct | Capillary malformation (disorder) |
234119001 | http://snomed.info/sct | Arterial malformation (disorder) |
234134007 | http://snomed.info/sct | Venous-lymphatic malformation (disorder) |
234141001 | http://snomed.info/sct | Congenital arteriovenous malformation (disorder) |
234142008 | http://snomed.info/sct | Cerebral arteriovenous malformation (disorder) |
234148007 | http://snomed.info/sct | Congenital arteriovenous fistula (disorder) |
234149004 | http://snomed.info/sct | Congenital arteriovenous fistula of brain (disorder) |
2355008 | http://snomed.info/sct | Rud's syndrome (disorder) |
235916001 | http://snomed.info/sct | Ichthyosis congenita with biliary atresia (disorder) |
236492003 | http://snomed.info/sct | Congenital renal artery aneurysm (disorder) |
236759008 | http://snomed.info/sct | Congenital familial idiopathic priapism (disorder) |
23686004 | http://snomed.info/sct | Ring chromosome 20 syndrome (disorder) |
237513002 | http://snomed.info/sct | Congenital anomaly of bone and joint (disorder) |
237714006 | http://snomed.info/sct | Hamartoma of hypothalamus (disorder) |
237747002 | http://snomed.info/sct | Feminization-adrenogenital syndrome (disorder) |
237751000 | http://snomed.info/sct | Congenital adrenal hyperplasia (disorder) |
238627002 | http://snomed.info/sct | Follicular ichthyosis (disorder) |
23880008 | http://snomed.info/sct | Congenital anomaly of peripheral nerve (disorder) |
239057002 | http://snomed.info/sct | Cutaneous syndrome with ichthyosis (disorder) |
24194000 | http://snomed.info/sct | Complete bilateral cleft palate (disorder) |
24786004 | http://snomed.info/sct | 7p partial monosomy (disorder) |
2495006 | http://snomed.info/sct | Congenital cerebral arteriovenous aneurysm (disorder) |
25148007 | http://snomed.info/sct | Congenital absence of uvula (disorder) |
253098009 | http://snomed.info/sct | Neural tube defect (disorder) |
253101008 | http://snomed.info/sct | Congenital cerebral hernia (disorder) |
253103006 | http://snomed.info/sct | Frontal encephalocele (disorder) |
253104000 | http://snomed.info/sct | Frontoethmoidal encephalocele (disorder) |
253106003 | http://snomed.info/sct | Nasofrontal encephalocele (disorder) |
253107007 | http://snomed.info/sct | Nasopharyngeal encephalocele (disorder) |
253108002 | http://snomed.info/sct | Temporal encephalocele (disorder) |
253109005 | http://snomed.info/sct | Parietal encephalocele (disorder) |
253111001 | http://snomed.info/sct | Thoracolumbar spina bifida without hydrocephalus - closed (disorder) |
253113003 | http://snomed.info/sct | Rachischisis with hydrocephalus (disorder) |
253114009 | http://snomed.info/sct | Myelocele with hydrocephalus (disorder) |
253117002 | http://snomed.info/sct | Closed spina bifida with Arnold-Chiari malformation (disorder) |
253118007 | http://snomed.info/sct | Thoracolumbar spina bifida with hydrocephalus - closed (disorder) |
253119004 | http://snomed.info/sct | Hemimyelocele (disorder) |
253120005 | http://snomed.info/sct | Lipomeningocele (disorder) |
253128003 | http://snomed.info/sct | Abnormality of neurogenesis (disorder) |
253135006 | http://snomed.info/sct | Defect of telencephalic division (disorder) |
253139000 | http://snomed.info/sct | Agenesis of corpus callosum with lipoma (disorder) |
253140003 | http://snomed.info/sct | Partial agenesis of corpus callosum (disorder) |
253146009 | http://snomed.info/sct | Disorder of neuronal migration and differentiation (disorder) |
253151003 | http://snomed.info/sct | Nodular heterotopia (disorder) |
253152005 | http://snomed.info/sct | Laminar heterotopia (disorder) |
253153000 | http://snomed.info/sct | Cortical dysplasia (disorder) |
253159001 | http://snomed.info/sct | Schizencephaly (disorder) |
253160006 | http://snomed.info/sct | Colpocephaly (disorder) |
253167009 | http://snomed.info/sct | Microdysgenesis (disorder) |
253171007 | http://snomed.info/sct | Dysgenesis of the cerebellum (disorder) |
253180007 | http://snomed.info/sct | Dysgenesis of the brainstem (disorder) |
253184003 | http://snomed.info/sct | Chiari malformation (disorder) |
253199003 | http://snomed.info/sct | Congenital malformation of the meninges (disorder) |
253241005 | http://snomed.info/sct | Orbital dystopia (disorder) |
253273004 | http://snomed.info/sct | Cardiac septal defects (disorder) |
253276007 | http://snomed.info/sct | Cor triloculare biventriculare (disorder) |
253304007 | http://snomed.info/sct | Solitary pulmonary trunk with aortic atresia (disorder) |
253316001 | http://snomed.info/sct | Abnormal inferior vena caval connection (disorder) |
253321003 | http://snomed.info/sct | Anomalous termination of right pulmonary vein (disorder) |
253327004 | http://snomed.info/sct | Congenital coronary sinus stenosis (disorder) |
253329001 | http://snomed.info/sct | Ductus venosus abnormality (disorder) |
253333008 | http://snomed.info/sct | Abnormal connection of hepatic vein to atrium (disorder) |
253439006 | http://snomed.info/sct | True cleft of common atrioventricular valve leaflet (disorder) |
253586007 | http://snomed.info/sct | Pulmonary valve ring hypoplasia (disorder) |
253667008 | http://snomed.info/sct | Aberrant retroesophageal brachiocephalic artery (disorder) |
253687009 | http://snomed.info/sct | Abnormal origin of ductus arteriosus (disorder) |
253688004 | http://snomed.info/sct | Collaterals to pulmonary arteries (disorder) |
253740007 | http://snomed.info/sct | Congenital malformation of trachea and bronchus (disorder) |
253741006 | http://snomed.info/sct | Congenital tracheoesophageal cleft (disorder) |
253750008 | http://snomed.info/sct | Congenital malformation of tongue, mouth and pharynx (disorder) |
253755003 | http://snomed.info/sct | Congenital malformation of salivary glands and ducts (disorder) |
253774006 | http://snomed.info/sct | Congenital fistula of anus (disorder) |
253837000 | http://snomed.info/sct | Congenital urethrovaginal fistula (disorder) |
253859003 | http://snomed.info/sct | Congenital malformation of the urinary system (disorder) |
253875000 | http://snomed.info/sct | Congenital calyceal diverticulum (disorder) |
253886003 | http://snomed.info/sct | Congenital obstructive defect of renal pelvis (disorder) |
253904001 | http://snomed.info/sct | Megacystis-megaureter syndrome (disorder) |
253909006 | http://snomed.info/sct | Congenital gastrointestinal-urinary tract fistula (disorder) |
253918008 | http://snomed.info/sct | Duplication of upper limb (disorder) |
253920006 | http://snomed.info/sct | Overgrowth of upper limb (disorder) |
253926000 | http://snomed.info/sct | Phocomelia of upper limb (disorder) |
253929007 | http://snomed.info/sct | Hypoplasia of upper limb (disorder) |
253934006 | http://snomed.info/sct | Hitch-hiker thumb (finding) |
253967005 | http://snomed.info/sct | Mesoaxial polydactyly of toe (disorder) |
25397008 | http://snomed.info/sct | Aqueduct of Sylvius anomaly (disorder) |
253972001 | http://snomed.info/sct | Syndactyly of thumb (disorder) |
253989009 | http://snomed.info/sct | Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) |
253993003 | http://snomed.info/sct | Cleft hard palate, central (disorder) |
253994009 | http://snomed.info/sct | Cleft hard palate, bilateral (disorder) |
253995005 | http://snomed.info/sct | Incomplete cleft hard and soft palate (disorder) |
253996006 | http://snomed.info/sct | Complete cleft hard and soft palate (disorder) |
253997002 | http://snomed.info/sct | Cleft of soft palate (disorder) |
254000002 | http://snomed.info/sct | Cleft soft palate, bilateral (disorder) |
254001003 | http://snomed.info/sct | Complete cleft of soft palate (disorder) |
254002005 | http://snomed.info/sct | Incomplete cleft of soft palate (disorder) |
254003000 | http://snomed.info/sct | Occult submucous cleft palate (disorder) |
254091006 | http://snomed.info/sct | Trichorhinophalangeal dysplasia type I (disorder) |
254157005 | http://snomed.info/sct | Ichthyosis vulgaris (disorder) |
254159008 | http://snomed.info/sct | Severe ichthyoses (disorder) |
254243001 | http://snomed.info/sct | Ash leaf spot, tuberous sclerosis (disorder) |
254261005 | http://snomed.info/sct | Pseudotrisomy 18 (disorder) |
254272000 | http://snomed.info/sct | Triploidy and polyploidy (disorder) |
254273005 | http://snomed.info/sct | Autosomal deletion - mosaicism (disorder) |
254274004 | http://snomed.info/sct | Deletion of part of autosome (disorder) |
254277006 | http://snomed.info/sct | Sex chromosome abnormality - female phenotype (disorder) |
254284003 | http://snomed.info/sct | Sex chromosome abnormality - male phenotype (disorder) |
254775002 | http://snomed.info/sct | Bregeat's syndrome (disorder) |
2593002 | http://snomed.info/sct | Dubowitz's syndrome (disorder) |
26146002 | http://snomed.info/sct | Complete transposition of great vessels (disorder) |
26179002 | http://snomed.info/sct | Congenital atresia of esophagus (disorder) |
26201005 | http://snomed.info/sct | Aortic left ventricular tunnel (disorder) |
26344006 | http://snomed.info/sct | Anomalous venous drainage (morphologic abnormality) |
26399002 | http://snomed.info/sct | Ocular albinism (disorder) |
26594006 | http://snomed.info/sct | Syringobulbia (disorder) |
266673001 | http://snomed.info/sct | Ectopic neuronal tissue (disorder) |
267372009 | http://snomed.info/sct | Congenital non bullous ichthyosiform erythroderma (disorder) |
267395000 | http://snomed.info/sct | Adrenogenital disorder (disorder) |
26780008 | http://snomed.info/sct | Coarctation of pulmonary artery (disorder) |
268143001 | http://snomed.info/sct | Spina bifida with hydrocephalus - open (disorder) |
268146009 | http://snomed.info/sct | Spina bifida without hydrocephalus - open (disorder) |
268187005 | http://snomed.info/sct | Congenital pulmonary artery aneurysm (disorder) |
268197001 | http://snomed.info/sct | Central incomplete cleft palate (disorder) |
268236002 | http://snomed.info/sct | Congenital bladder neck stenosis (disorder) |
268239009 | http://snomed.info/sct | Congenital abnormality of skull and face bones (disorder) |
268264007 | http://snomed.info/sct | Constriction ring of upper limb with lymphedema (disorder) |
268265008 | http://snomed.info/sct | Congenital anomalies of elbow and upper arm (disorder) |
268854008 | http://snomed.info/sct | Congenital renal failure (disorder) |
270510008 | http://snomed.info/sct | Anomalous coronary artery communication (disorder) |
270513005 | http://snomed.info/sct | Central complete cleft palate (disorder) |
270517006 | http://snomed.info/sct | Triple kidney with triple pelvis (disorder) |
270520003 | http://snomed.info/sct | Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder) |
270521004 | http://snomed.info/sct | Trisomy and partial trisomy of autosome (disorder) |
270889005 | http://snomed.info/sct | Deletion of long arm of chromosome 18 (disorder) |
270890001 | http://snomed.info/sct | Deletion of short arm of chromosome 18 (disorder) |
271387005 | http://snomed.info/sct | Congenital enlarged kidney (disorder) |
271432005 | http://snomed.info/sct | Congenital renal artery stenosis (disorder) |
271573009 | http://snomed.info/sct | Congenital abnormality of thoracic aorta and pulmonary arteries (disorder) |
27183007 | http://snomed.info/sct | Anomaly of chromosome pair 14 (disorder) |
27272007 | http://snomed.info/sct | Byzanthine arch palate (disorder) |
274908005 | http://snomed.info/sct | Deletion with complex rearrangement (disorder) |
275260000 | http://snomed.info/sct | Congenital malformation of the respiratory system (disorder) |
275262008 | http://snomed.info/sct | Congenital malformation of upper alimentary tract (disorder) |
276585000 | http://snomed.info/sct | Congenital nephritis (disorder) |
276627004 | http://snomed.info/sct | Congenital uremia (disorder) |
276654001 | http://snomed.info/sct | Congenital malformation (disorder) |
277369003 | http://snomed.info/sct | Hamartoma of brain (disorder) |
277563003 | http://snomed.info/sct | Posterior buccal occlusion of mandibular teeth (disorder) |
277921008 | http://snomed.info/sct | Atelencephaly (disorder) |
277922001 | http://snomed.info/sct | Aprosencephaly (disorder) |
277949001 | http://snomed.info/sct | Combined malformation of central nervous system and skeletal muscle (disorder) |
278509004 | http://snomed.info/sct | Congenital non-progressive ataxia (disorder) |
278531007 | http://snomed.info/sct | Congenital hydrocalicosis (disorder) |
280831005 | http://snomed.info/sct | Arterial embryological remnant (disorder) |
281109007 | http://snomed.info/sct | Vestigial gastrointestinal remnant (disorder) |
2818004 | http://snomed.info/sct | Congenital vascular anomaly of eye (disorder) |
282036005 | http://snomed.info/sct | Congenital arterial aneurysm (disorder) |
2828008 | http://snomed.info/sct | Congenital stenosis of nares (disorder) |
28574005 | http://snomed.info/sct | Congenital anomaly of coronary artery (disorder) |
287080001 | http://snomed.info/sct | Congenital anomaly of nervous system of head/neck (disorder) |
28770003 | http://snomed.info/sct | Polycystic kidney disease, infantile type (disorder) |
28828001 | http://snomed.info/sct | Gastric atresia (disorder) |
2893009 | http://snomed.info/sct | Anomaly of chromosome pair 10 (disorder) |
290006 | http://snomed.info/sct | Melnick-Fraser syndrome (disorder) |
29052002 | http://snomed.info/sct | Bilobed right lung (disorder) |
29057008 | http://snomed.info/sct | Venous anomaly of umbilical cord (disorder) |
29379007 | http://snomed.info/sct | 8q partial monosomy syndrome (disorder) |
29632002 | http://snomed.info/sct | Congenital atresia of pharynx (disorder) |
297218007 | http://snomed.info/sct | Congenital abnormality of ductus arteriosus (disorder) |
3004001 | http://snomed.info/sct | Congenital dilatation of esophagus (disorder) |
30171000 | http://snomed.info/sct | Disorder of adrenal gland (disorder) |
302298004 | http://snomed.info/sct | Congenital rearfoot valgus (disorder) |
302299007 | http://snomed.info/sct | Congenital forefoot valgus (disorder) |
30275001 | http://snomed.info/sct | Accessory kidney (disorder) |
302882002 | http://snomed.info/sct | Hydrocephalus associated with congenital aqueduct stenosis (disorder) |
302952007 | http://snomed.info/sct | Congenital fistula of rectum and anus (disorder) |
302956005 | http://snomed.info/sct | Transverse deficiency of hand (disorder) |
302959003 | http://snomed.info/sct | Duplication of lower limb (disorder) |
30361005 | http://snomed.info/sct | 1q partial monosomy (disorder) |
30620003 | http://snomed.info/sct | Spina bifida of dorsal region (disorder) |
306699001 | http://snomed.info/sct | Discharge to hospital (procedure) |
306701001 | http://snomed.info/sct | Discharge to community hospital (procedure) |
30691008 | http://snomed.info/sct | Anomalous origin of artery (morphologic abnormality) |
307355007 | http://snomed.info/sct | Congenital athetosis (disorder) |
30915001 | http://snomed.info/sct | Holoprosencephaly sequence (disorder) |
31076000 | http://snomed.info/sct | Congenital ischemic atrophy of central nervous system structure (disorder) |
310798000 | http://snomed.info/sct | Brachydactyly of hand (disorder) |
31290005 | http://snomed.info/sct | Congenital hydroureter (disorder) |
31325007 | http://snomed.info/sct | Ring chromosome 21 syndrome (disorder) |
31337009 | http://snomed.info/sct | Feminizing syndrome of adrenal origin (disorder) |
31429000 | http://snomed.info/sct | Cerebral cortical dysgenesis (disorder) |
31570000 | http://snomed.info/sct | Congenital atresia of artery (disorder) |
31686000 | http://snomed.info/sct | Congenital anomaly of lower alimentary tract (disorder) |
32107005 | http://snomed.info/sct | Anomaly of chromosome pair 17 (disorder) |
32113001 | http://snomed.info/sct | Syndactyly of toes (disorder) |
32232003 | http://snomed.info/sct | Spina bifida of cervical region (disorder) |
32299009 | http://snomed.info/sct | Anomaly of chromosome pair 2 (disorder) |
32659003 | http://snomed.info/sct | Congenital hypoplasia of kidney (disorder) |
32809005 | http://snomed.info/sct | Congenital anomaly of sclera (disorder) |
337471007 | http://snomed.info/sct | Cleft upper lip, upper jaw AND palate (disorder) |
338486003 | http://snomed.info/sct | Cheilognathouranoschisis (disorder) |
34048007 | http://snomed.info/sct | Syndactyly of fingers (disorder) |
34638006 | http://snomed.info/sct | Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) |
34774005 | http://snomed.info/sct | Congenital absence of bronchus (disorder) |
34821005 | http://snomed.info/sct | Congenital stenosis of choanae (disorder) |
359557001 | http://snomed.info/sct | Disorder of artery (disorder) |
359824007 | http://snomed.info/sct | Incomplete anencephaly (disorder) |
36010004 | http://snomed.info/sct | Congenital cerebral meningocele (disorder) |
36025004 | http://snomed.info/sct | Fibrous skin tumor of tuberous sclerosis (disorder) |
360522009 | http://snomed.info/sct | Congenital epulis of newborn (disorder) |
36110001 | http://snomed.info/sct | Congenital anomaly of pulmonary artery (disorder) |
36114005 | http://snomed.info/sct | Sex phenotype-karyotype dissociation syndrome (disorder) |
361264003 | http://snomed.info/sct | Congenital arteriovenous fistula of kidney (disorder) |
36233006 | http://snomed.info/sct | Congenital stenosis of tricuspid valve (disorder) |
362984008 | http://snomed.info/sct | Anomaly of chromosome pair (disorder) |
362998000 | http://snomed.info/sct | Branchial cleft anomaly (disorder) |
363028003 | http://snomed.info/sct | Congenital anomaly of cardiovascular structure of trunk (disorder) |
363032009 | http://snomed.info/sct | Congenital anomaly of musculoskeletal structure of trunk (disorder) |
363034005 | http://snomed.info/sct | Congenital anomaly of neural structure of trunk (disorder) |
363185004 | http://snomed.info/sct | Hereditary disorder of the integument (disorder) |
36369001 | http://snomed.info/sct | 1p partial monosomy (disorder) |
36376006 | http://snomed.info/sct | Congenital absence of esophagus (disorder) |
36659001 | http://snomed.info/sct | Congenital notching of tip of nose (disorder) |
367468008 | http://snomed.info/sct | Congenital atresia of nares (disorder) |
370480003 | http://snomed.info/sct | Hepatoportal microvascular dysplasia (disorder) |
371109001 | http://snomed.info/sct | Immature autonomic system (disorder) |
371405004 | http://snomed.info/sct | Disorder of eye proper (disorder) |
3733009 | http://snomed.info/sct | Congenital eventration of right crus of diaphragm (disorder) |
373643003 | http://snomed.info/sct | Cleft lip and cleft of alveolar process of maxilla (disorder) |
37367006 | http://snomed.info/sct | Anomaly of chromosome pair 7 (disorder) |
37506004 | http://snomed.info/sct | 4q partial monosomy syndrome (disorder) |
37535007 | http://snomed.info/sct | Anomaly of chromosome pair 12 (disorder) |
37767008 | http://snomed.info/sct | Congenital deformity of wall of nasal sinus (disorder) |
37939008 | http://snomed.info/sct | Congenital anomaly of the bladder (disorder) |
38353004 | http://snomed.info/sct | Congenital porencephaly (disorder) |
389166003 | http://snomed.info/sct | Trichorhinophalangeal dysplasia type III (disorder) |
392461003 | http://snomed.info/sct | Congenital ectopic pupil (disorder) |
396351009 | http://snomed.info/sct | Congenital septal defect (morphologic abnormality) |
3987009 | http://snomed.info/sct | Congenital absence of trachea (disorder) |
39905002 | http://snomed.info/sct | Scimitar syndrome (disorder) |
399960008 | http://snomed.info/sct | Congenital hamartoma (disorder) |
399982001 | http://snomed.info/sct | Congenital vascular disorder (disorder) |
400017009 | http://snomed.info/sct | Mixed vascular malformation (disorder) |
400042000 | http://snomed.info/sct | Cutaneous vascular malformation (disorder) |
400159008 | http://snomed.info/sct | Congenital vascular malformation (disorder) |
40130009 | http://snomed.info/sct | Spina bifida without hydrocephalus (disorder) |
402770002 | http://snomed.info/sct | Autosomal dominant ichthyosis (disorder) |
402772005 | http://snomed.info/sct | Autosomal recessive ichthyosis (disorder) |
40354009 | http://snomed.info/sct | De Lange syndrome (disorder) |
403760006 | http://snomed.info/sct | XXYY syndrome (disorder) |
405752007 | http://snomed.info/sct | Congenital atrial septal defect (disorder) |
40627003 | http://snomed.info/sct | Congenital absence of vein (disorder) |
41279003 | http://snomed.info/sct | Congenital esophagobronchial fistula (disorder) |
41283003 | http://snomed.info/sct | Cerebro-oculo-facio-skeletal syndrome (disorder) |
4160001 | http://snomed.info/sct | Congenital anomaly of upper respiratory system (disorder) |
416010008 | http://snomed.info/sct | Hypospadias (disorder) |
416792008 | http://snomed.info/sct | Vein of Galen malformation (disorder) |
417658006 | http://snomed.info/sct | Holoanencephaly (disorder) |
42072004 | http://snomed.info/sct | Anomalous venous connection (morphologic abnormality) |
42162004 | http://snomed.info/sct | Congenital varus deformity of foot (disorder) |
422474003 | http://snomed.info/sct | Partial absence of septum pellucidum (disorder) |
42376006 | http://snomed.info/sct | Occipital encephalocele (disorder) |
425687007 | http://snomed.info/sct | Spina bifida aperta of cervical spine (disorder) |
427216002 | http://snomed.info/sct | Spina bifida aperta of thoracic spine (disorder) |
428543009 | http://snomed.info/sct | Congenital vascular malformation of lip (disorder) |
429448005 | http://snomed.info/sct | Congenital anomaly of anterior segment of eye (disorder) |
429466000 | http://snomed.info/sct | Spina bifida aperta of lumbar spine (disorder) |
432461000 | http://snomed.info/sct | Congenital anomaly of renal blood vessel (disorder) |
43383008 | http://snomed.info/sct | Congenital diverticulum of bronchus (disorder) |
43420005 | http://snomed.info/sct | 9q partial monosomy syndrome (disorder) |
43427008 | http://snomed.info/sct | Ectopic glial tissue (disorder) |
43437003 | http://snomed.info/sct | Submucous cleft of hard palate (disorder) |
43910005 | http://snomed.info/sct | Congenital hypoplasia of aorta (disorder) |
44241007 | http://snomed.info/sct | Heart valve stenosis (disorder) |
443329006 | http://snomed.info/sct | Bulboventricular foramen (morphologic abnormality) |
443445009 | http://snomed.info/sct | Cor triatriatum orifice (morphologic abnormality) |
444667006 | http://snomed.info/sct | Congenital deformity of pharynx (disorder) |
445116003 | http://snomed.info/sct | Encephalocele of vertex (disorder) |
44513007 | http://snomed.info/sct | Congenital anomaly of the kidney (disorder) |
445306000 | http://snomed.info/sct | Cleft of alveolar ridge (disorder) |
445307009 | http://snomed.info/sct | Spina bifida of sacral region (disorder) |
445486004 | http://snomed.info/sct | Congenital malformation of blood vessel of orbit proper (disorder) |
445543002 | http://snomed.info/sct | Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) |
44622003 | http://snomed.info/sct | Congenital hypoplasia of umbilical artery (disorder) |
446432002 | http://snomed.info/sct | Pulmonary venous hypoplasia (disorder) |
44710007 | http://snomed.info/sct | Anomaly of chromosome pair 6 (disorder) |
447269006 | http://snomed.info/sct | Persistent common pulmonary vein (disorder) |
447275002 | http://snomed.info/sct | Alveolar capillary dysplasia with pulmonary venous misalignment (disorder) |
447661004 | http://snomed.info/sct | Diverticulum of coronary sinus (disorder) |
447668005 | http://snomed.info/sct | Discontinuous pulmonary arteries (disorder) |
447823004 | http://snomed.info/sct | Congenital abnormality of hepatic vein (disorder) |
447832002 | http://snomed.info/sct | Total anomalous pulmonary venous connection of supracardiac type (disorder) |
447914003 | http://snomed.info/sct | Total anomalous pulmonary venous connection of intracardiac type (disorder) |
448000003 | http://snomed.info/sct | Right superior vena cava connecting to left atrium and right atrium (disorder) |
448005008 | http://snomed.info/sct | Atresia of systemic vein (disorder) |
448081001 | http://snomed.info/sct | Hepatic vein to coronary sinus (disorder) |
448096002 | http://snomed.info/sct | Aberrant origin of left subclavian artery (disorder) |
448113007 | http://snomed.info/sct | Right superior vena cava connecting to coronary sinus (disorder) |
448181004 | http://snomed.info/sct | Anomalous coronary venous return (disorder) |
448326002 | http://snomed.info/sct | Right inferior vena cava connecting to left atrium and right atrium (disorder) |
448472004 | http://snomed.info/sct | Congenital abnormality of pulmonary trunk (disorder) |
448486000 | http://snomed.info/sct | Anomalous pulmonary to systemic collateral vein (disorder) |
448487009 | http://snomed.info/sct | Anomalous pulmonary venous connection of mixed type (disorder) |
448493001 | http://snomed.info/sct | Stomach in central position (disorder) |
448495008 | http://snomed.info/sct | Stomach in right sided position (disorder) |
448499002 | http://snomed.info/sct | Infracardiac location of anomalous pulmonary venous connection (disorder) |
448500006 | http://snomed.info/sct | Intracardiac location of anomalous pulmonary venous connection (disorder) |
448599000 | http://snomed.info/sct | Total anomalous pulmonary venous connection of infracardiac type (disorder) |
448631009 | http://snomed.info/sct | Right inferior vena cava connecting to left sided atrium (disorder) |
448632002 | http://snomed.info/sct | Left inferior vena cava connecting to left atrium and right atrium (disorder) |
448647006 | http://snomed.info/sct | Bilateral bilobed lungs due to isomerism of left lung (disorder) |
448726004 | http://snomed.info/sct | Parallel course of aorta and pulmonary artery (disorder) |
448727008 | http://snomed.info/sct | Total anomalous pulmonary venous connections of mixed type (disorder) |
448728003 | http://snomed.info/sct | Supracardiac location of anomalous pulmonary venous connection (disorder) |
448915004 | http://snomed.info/sct | Cleft of hard palate (disorder) |
448965008 | http://snomed.info/sct | Inferior vena cava connecting to right atrium and left atrium (disorder) |
449085001 | http://snomed.info/sct | Pulmonary artery connecting to coronary artery via collateral artery (disorder) |
449790007 | http://snomed.info/sct | Orofacial cleft (disorder) |
449819002 | http://snomed.info/sct | 3p partial monosomy syndrome (disorder) |
45142002 | http://snomed.info/sct | Congenital pulmonary lymphangiectasis (disorder) |
45237002 | http://snomed.info/sct | Congenital dilatation of aorta (disorder) |
45503006 | http://snomed.info/sct | Common ventricle (disorder) |
45795007 | http://snomed.info/sct | Melanosis oculi (disorder) |
46041001 | http://snomed.info/sct | Maffucci syndrome (disorder) |
461093009 | http://snomed.info/sct | Bilateral ductus arteriosus (disorder) |
47017007 | http://snomed.info/sct | Ring chromosome 1 syndrome (disorder) |
47028006 | http://snomed.info/sct | Congenital hiatus hernia (disorder) |
47032000 | http://snomed.info/sct | Congenital hydrocephalus (disorder) |
47070001 | http://snomed.info/sct | Congenital web of larynx (disorder) |
47147007 | http://snomed.info/sct | Congenital anomaly of lung (disorder) |
47686007 | http://snomed.info/sct | Incomplete bilateral cleft palate (disorder) |
48061001 | http://snomed.info/sct | Congenital calculus of kidney (disorder) |
48082007 | http://snomed.info/sct | Anomaly of chromosome pair 8 (disorder) |
48249002 | http://snomed.info/sct | Congenital anisocoria (disorder) |
48337000 | http://snomed.info/sct | Congenital stricture of urinary meatus (disorder) |
48376004 | http://snomed.info/sct | Congenital pseudoporencephaly (disorder) |
48796009 | http://snomed.info/sct | Congenital nephrotic syndrome (disorder) |
4945003 | http://snomed.info/sct | Microgyria (disorder) |
49534003 | http://snomed.info/sct | Congenital atresia of ureter (disorder) |
49601007 | http://snomed.info/sct | Disorder of cardiovascular system (disorder) |
50429003 | http://snomed.info/sct | Congenital stenosis of aqueduct of Sylvius (disorder) |
5051002 | http://snomed.info/sct | Anomaly of chromosome pair 9 (disorder) |
50513008 | http://snomed.info/sct | Congenital atresia of bronchus (disorder) |
50869007 | http://snomed.info/sct | Ehlers-Danlos syndrome, type 8 (disorder) |
50943000 | http://snomed.info/sct | Congenital anomaly of bronchus (disorder) |
50986000 | http://snomed.info/sct | Congenital fistula of urachus (disorder) |
5102002 | http://snomed.info/sct | Agenesis of corpus callosum (disorder) |
51118003 | http://snomed.info/sct | Congenital atresia of duodenum (disorder) |
51442005 | http://snomed.info/sct | Congenital atresia of aortic valve (disorder) |
51523009 | http://snomed.info/sct | Congenital laryngocele (disorder) |
51794008 | http://snomed.info/sct | Congenital anomaly of ureter (disorder) |
5187006 | http://snomed.info/sct | Prune belly syndrome (disorder) |
520004 | http://snomed.info/sct | Congenital bent nose (disorder) |
52330001 | http://snomed.info/sct | Meningoencephalocele (disorder) |
52757001 | http://snomed.info/sct | Congenital supravalvular pulmonary stenosis (disorder) |
52859009 | http://snomed.info/sct | Rathke's pouch cyst (disorder) |
53076002 | http://snomed.info/sct | Congenital gastric perforation (disorder) |
53189005 | http://snomed.info/sct | Congenital atresia of trachea (disorder) |
53318002 | http://snomed.info/sct | Spina bifida with hydrocephalus (disorder) |
53392002 | http://snomed.info/sct | Anomaly of chromosome pair 16 (disorder) |
53776005 | http://snomed.info/sct | Encephalocystocele (disorder) |
5397007 | http://snomed.info/sct | Congenital anomaly of renal pelvis (disorder) |
54265003 | http://snomed.info/sct | Congenital anomaly of cerebral artery (disorder) |
54336006 | http://snomed.info/sct | Ichthyosis linearis circumflexa (disorder) |
54616001 | http://snomed.info/sct | Congenital hypertrophy of pylorus (disorder) |
54682008 | http://snomed.info/sct | Congenital hypoplasia of pulmonary artery (disorder) |
54794009 | http://snomed.info/sct | Ectopic gray matter in centrum ovale (disorder) |
55536001 | http://snomed.info/sct | Congenital malposition of kidney (disorder) |
5565008 | http://snomed.info/sct | Congenital diverticulum of trachea (disorder) |
55999004 | http://snomed.info/sct | Encephalocele (disorder) |
5645008 | http://snomed.info/sct | Nasal glial heterotopia (disorder) |
56531003 | http://snomed.info/sct | Ulegyria (disorder) |
57088004 | http://snomed.info/sct | Microcystic renal disease (disorder) |
57148006 | http://snomed.info/sct | Congenital anomaly of brain (disorder) |
57201002 | http://snomed.info/sct | Marfanoid joint hypermobility syndrome (disorder) |
57361003 | http://snomed.info/sct | Anomaly of chromosome pair 5 (disorder) |
57917004 | http://snomed.info/sct | Seckel syndrome (disorder) |
58557008 | http://snomed.info/sct | Spina bifida aperta (disorder) |
59033006 | http://snomed.info/sct | Anomaly of chromosome pair 18 (disorder) |
59494005 | http://snomed.info/sct | Congenital septal defect of heart (disorder) |
59631007 | http://snomed.info/sct | Anomalous pulmonary venous drainage (disorder) |
59877000 | http://snomed.info/sct | Congenital anomaly of aorta (disorder) |
6002006 | http://snomed.info/sct | 10p partial monosomy syndrome (disorder) |
60091004 | http://snomed.info/sct | Congenital stricture of artery (disorder) |
60232001 | http://snomed.info/sct | Cleft leaflet of tricuspid valve (disorder) |
60650002 | http://snomed.info/sct | Ring chromosome 9 syndrome (disorder) |
60680007 | http://snomed.info/sct | Duplication of duodenum (disorder) |
60699003 | http://snomed.info/sct | Congenital anomaly of stomach (disorder) |
60891003 | http://snomed.info/sct | Anomaly of chromosome pair 11 (disorder) |
61142002 | http://snomed.info/sct | Microphthalmos (disorder) |
613003 | http://snomed.info/sct | Fragile X syndrome (disorder) |
61819007 | http://snomed.info/sct | Rachischisis (disorder) |
61959006 | http://snomed.info/sct | Common truncus arteriosus (disorder) |
62023000 | http://snomed.info/sct | Arterial anomaly of umbilical cord (disorder) |
62158001 | http://snomed.info/sct | Status marmoratus (disorder) |
62500006 | http://snomed.info/sct | Accessory bladder (disorder) |
62631009 | http://snomed.info/sct | Congenital cyst of posterior segment of eye (disorder) |
6296006 | http://snomed.info/sct | Congenital dilatation of trachea (disorder) |
63042009 | http://snomed.info/sct | Congenital atresia of tricuspid valve (disorder) |
63567004 | http://snomed.info/sct | Cleft hard and soft palate (disorder) |
63691004 | http://snomed.info/sct | Dens evaginatus (disorder) |
63702009 | http://snomed.info/sct | Alstrom syndrome (disorder) |
63844009 | http://snomed.info/sct | Oculocutaneous albinism (disorder) |
64162006 | http://snomed.info/sct | Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) |
64370005 | http://snomed.info/sct | Aganglionosis of parasympathetic nerve ganglia (disorder) |
64727007 | http://snomed.info/sct | Accessory ureter (disorder) |
64981002 | http://snomed.info/sct | Congenital atresia of larynx (disorder) |
65455002 | http://snomed.info/sct | Nasal encephalocele (disorder) |
66042003 | http://snomed.info/sct | Congenital hyperplasia of muscle (disorder) |
66403007 | http://snomed.info/sct | Vascular ring of aorta (disorder) |
66489009 | http://snomed.info/sct | Congenital absence of lung (disorder) |
66793004 | http://snomed.info/sct | Congenital absence of alimentary tract (disorder) |
66865009 | http://snomed.info/sct | Congenital duplication of esophagus (disorder) |
66948001 | http://snomed.info/sct | Cleft palate with cleft lip (disorder) |
67278007 | http://snomed.info/sct | Congenital stenosis of pulmonary valve (disorder) |
67510007 | http://snomed.info/sct | Ichthyosis hystrix (disorder) |
67531005 | http://snomed.info/sct | Spina bifida (disorder) |
67876003 | http://snomed.info/sct | Congenital obstruction of aqueduct of Sylvius (disorder) |
67988000 | http://snomed.info/sct | Congenital anomaly of cartilage (disorder) |
68092007 | http://snomed.info/sct | Anomalous origin of pulmonary artery (disorder) |
68237008 | http://snomed.info/sct | Partial anomalous pulmonary venous connection (disorder) |
68539005 | http://snomed.info/sct | Congenital bronchopulmonary foregut malformation (disorder) |
68551007 | http://snomed.info/sct | Limb reduction-ichthyosis syndrome (disorder) |
68914007 | http://snomed.info/sct | Congenital mesenteroaxial volvulus of stomach (disorder) |
69664005 | http://snomed.info/sct | Ecchordosis physaliphora (disorder) |
69771008 | http://snomed.info/sct | Congenital anomaly of esophagus (disorder) |
70156005 | http://snomed.info/sct | Anomaly of chromosome pair 21 (disorder) |
70173007 | http://snomed.info/sct | 5p partial monosomy syndrome (disorder) |
703000 | http://snomed.info/sct | Congenital adhesions of tongue (disorder) |
70305005 | http://snomed.info/sct | Horizontal overbite (disorder) |
70320004 | http://snomed.info/sct | Congenital anomaly of heart valve (disorder) |
70450006 | http://snomed.info/sct | Ectopic gastric tissue (disorder) |
70452003 | http://snomed.info/sct | Anomaly of chromosome pair 22 (disorder) |
70534000 | http://snomed.info/sct | Occult spinal dysraphism sequence (disorder) |
7199000 | http://snomed.info/sct | Tuberous sclerosis syndrome (disorder) |
72252007 | http://snomed.info/sct | Congenital hypoplasia of cardiac vein (disorder) |
72292009 | http://snomed.info/sct | Congenital anomaly of larynx (disorder) |
72523005 | http://snomed.info/sct | X-linked ichthyosis with steryl-sulfatase deficiency (disorder) |
72991005 | http://snomed.info/sct | Polyploidy syndrome (disorder) |
73573004 | http://snomed.info/sct | Congenital anomaly of musculoskeletal system (disorder) |
7368005 | http://snomed.info/sct | Double outlet left ventricle (disorder) |
74012004 | http://snomed.info/sct | Congenital anomaly of pituitary gland (disorder) |
74345006 | http://snomed.info/sct | Congenital disorder due to abnormality of chromosome number OR structure (disorder) |
74622009 | http://snomed.info/sct | Congenital short hard palate (disorder) |
74769007 | http://snomed.info/sct | Anomaly of chromosome pair 1 (disorder) |
74788000 | http://snomed.info/sct | Tongue absent (disorder) |
74829002 | http://snomed.info/sct | Persistent cloaca (disorder) |
74877002 | http://snomed.info/sct | Congenital anomaly of spine (disorder) |
74919005 | http://snomed.info/sct | Congenital stricture of ureter (disorder) |
75076004 | http://snomed.info/sct | Amyelencephalus (disorder) |
75398000 | http://snomed.info/sct | Anomalous origin of coronary artery (disorder) |
75633002 | http://snomed.info/sct | Congenital anoperineal fistula (disorder) |
75968004 | http://snomed.info/sct | Sotos' syndrome (disorder) |
76280006 | http://snomed.info/sct | Rudimentary tracheal bronchus (disorder) |
76880004 | http://snomed.info/sct | Angelman syndrome (disorder) |
76916001 | http://snomed.info/sct | Spina bifida occulta (disorder) |
77224008 | http://snomed.info/sct | Spina bifida of lumbar region (disorder) |
77414002 | http://snomed.info/sct | Cheilognathoschisis (disorder) |
77593006 | http://snomed.info/sct | Congenital bronchiectasis (disorder) |
77595004 | http://snomed.info/sct | Reduction deformity of lower limb (disorder) |
77761000 | http://snomed.info/sct | Congenital absence of ureter (disorder) |
78495000 | http://snomed.info/sct | Cleft leaflet of mitral valve (disorder) |
78572006 | http://snomed.info/sct | Neurocutaneous syndrome (disorder) |
78693004 | http://snomed.info/sct | Congenital hypoplasia of part of brain (disorder) |
78740005 | http://snomed.info/sct | Complete monosomy 21 (disorder) |
79191007 | http://snomed.info/sct | Congenital anomaly of muscle AND/OR tendon (disorder) |
79656000 | http://snomed.info/sct | Anomaly of chromosome pair 19 (disorder) |
79788002 | http://snomed.info/sct | Atresia of urinary meatus (disorder) |
79807003 | http://snomed.info/sct | Talipes valgus (disorder) |
80281008 | http://snomed.info/sct | Cleft lip (disorder) |
80651009 | http://snomed.info/sct | Aicardi's syndrome (disorder) |
80797002 | http://snomed.info/sct | Congenital stricture of vesicourethral orifice (disorder) |
80825009 | http://snomed.info/sct | Congenital hypoplasia of lung (disorder) |
81042008 | http://snomed.info/sct | Congenital anomaly of spinal cord (disorder) |
81103005 | http://snomed.info/sct | Congenital atresia of vein (disorder) |
81107006 | http://snomed.info/sct | Congenital diverticulum of bladder (disorder) |
81304006 | http://snomed.info/sct | 7q partial monosomy (disorder) |
81438002 | http://snomed.info/sct | Anomaly of chromosome Y (disorder) |
81678004 | http://snomed.info/sct | Ring chromosome 4 syndrome (disorder) |
81771002 | http://snomed.info/sct | Opitz-Frias syndrome (disorder) |
82458004 | http://snomed.info/sct | Congenital stenosis of mitral valve (disorder) |
82525005 | http://snomed.info/sct | Congenital cystic kidney disease (disorder) |
82635007 | http://snomed.info/sct | Accessory urethra (disorder) |
83028006 | http://snomed.info/sct | Congenital partial absence of alimentary tract (disorder) |
83714006 | http://snomed.info/sct | Congenital microgastria (disorder) |
84461004 | http://snomed.info/sct | Exencephaly (disorder) |
8447006 | http://snomed.info/sct | Congenital anomaly of skeletal bone (disorder) |
84557007 | http://snomed.info/sct | Bifid tongue (disorder) |
84711007 | http://snomed.info/sct | Anomaly of chromosome pair 4 (disorder) |
85901000 | http://snomed.info/sct | Megacalycosis (disorder) |
86252004 | http://snomed.info/sct | Agenesis of pulmonary artery (disorder) |
86997002 | http://snomed.info/sct | Ring chromosome 10 syndrome (disorder) |
87119009 | http://snomed.info/sct | Congenital cystic lung (disorder) |
87979003 | http://snomed.info/sct | Cleft palate (disorder) |
88035001 | http://snomed.info/sct | Congenital megalogastria (disorder) |
88102009 | http://snomed.info/sct | Nodular renal blastema (disorder) |
88154004 | http://snomed.info/sct | Ring chromosome 18 syndrome (disorder) |
88244008 | http://snomed.info/sct | Congenital stenosis of vena cava (disorder) |
88425004 | http://snomed.info/sct | Congenital anomaly of nervous system (disorder) |
89199004 | http://snomed.info/sct | Congenital web of esophagus (disorder) |
89378007 | http://snomed.info/sct | Congenital displacement of stomach (disorder) |
89392001 | http://snomed.info/sct | Prader-Willi syndrome (disorder) |
89886004 | http://snomed.info/sct | Congenital anomaly of skeletal muscle (disorder) |
89954008 | http://snomed.info/sct | Ectopic pancreatic tissue in stomach (disorder) |
90669003 | http://snomed.info/sct | Congenital diverticulum of stomach (disorder) |
91210006 | http://snomed.info/sct | Congenital anourethral fistula (disorder) |
91431006 | http://snomed.info/sct | Supernumerary structure (morphologic abnormality) |
91605000 | http://snomed.info/sct | Congenital absence of artery (disorder) |
91841003 | http://snomed.info/sct | Abnormal communication between pericardial sac and peritoneal cavity (disorder) |
91849001 | http://snomed.info/sct | Acephalostomia (disorder) |
91868003 | http://snomed.info/sct | Congenital absence of stomach (disorder) |
91890003 | http://snomed.info/sct | Congenital absence of intestinal tract (disorder) |
91901006 | http://snomed.info/sct | Congenital absence of palatine bone (disorder) |
92870005 | http://snomed.info/sct | Congenital abnormal fusion of palatine bone (disorder) |
92883006 | http://snomed.info/sct | Congenital abnormal fusion of vomer (disorder) |
92905000 | http://snomed.info/sct | Congenital abnormal shape of cerebrum (disorder) |
92921005 | http://snomed.info/sct | Congenital abnormal shape of kidney (disorder) |
92925001 | http://snomed.info/sct | Congenital abnormal shape of lung (disorder) |
92934006 | http://snomed.info/sct | Congenital abnormal shape of palate rugae (disorder) |
92935007 | http://snomed.info/sct | Congenital abnormal shape of palatine bone (disorder) |
92958005 | http://snomed.info/sct | Congenital abnormal shape of vomer (disorder) |
92970009 | http://snomed.info/sct | Congenital absence of nasal turbinate (disorder) |
92971008 | http://snomed.info/sct | Congenital absence of nasal septum (disorder) |
92977007 | http://snomed.info/sct | Congenital absence of subclavian artery (disorder) |
92994009 | http://snomed.info/sct | Congenital anomaly of azygos vein (disorder) |
93012004 | http://snomed.info/sct | Congenital anomaly of nasal turbinate (disorder) |
93028009 | http://snomed.info/sct | Congenital anomaly of vomer (disorder) |
93052002 | http://snomed.info/sct | Congenital dilatation of bladder (disorder) |
93054001 | http://snomed.info/sct | Congenital dilatation of carotid artery (disorder) |
93055000 | http://snomed.info/sct | Congenital dilatation of ductus arteriosus (disorder) |
93056004 | http://snomed.info/sct | Congenital dilatation of inferior vena cava (disorder) |
93057008 | http://snomed.info/sct | Congenital dilatation of innominate artery (disorder) |
93059006 | http://snomed.info/sct | Congenital dilatation of pulmonary artery (disorder) |
93060001 | http://snomed.info/sct | Congenital dilatation of stomach (disorder) |
93061002 | http://snomed.info/sct | Congenital dilatation of subclavian artery (disorder) |
93062009 | http://snomed.info/sct | Congenital dilatation of superior vena cava (disorder) |
93064005 | http://snomed.info/sct | Congenital duplication of aorta (disorder) |
93067003 | http://snomed.info/sct | Congenital elongation of innominate artery (disorder) |
93072007 | http://snomed.info/sct | Congenital hypertrophy of nasal cavity (disorder) |
93181004 | http://snomed.info/sct | Macrophthalmos (disorder) |
93245009 | http://snomed.info/sct | Congenital hypoplasia of bladder (disorder) |
93249003 | http://snomed.info/sct | Congenital hypoplasia of cerebrum (disorder) |
93275004 | http://snomed.info/sct | Congenital hypoplasia of nasal cavity (disorder) |
93276003 | http://snomed.info/sct | Congenital hypoplasia of nasal turbinate (disorder) |
93277007 | http://snomed.info/sct | Congenital hypoplasia of nasal septum (disorder) |
93278002 | http://snomed.info/sct | Congenital hypoplasia of nose (disorder) |
93281007 | http://snomed.info/sct | Congenital hypoplasia of palatine bone (disorder) |
93302004 | http://snomed.info/sct | Congenital hypoplasia of vomer (disorder) |
93312006 | http://snomed.info/sct | Congenital malposition of carotid artery (disorder) |
93320008 | http://snomed.info/sct | Congenital malposition of eye (disorder) |
93329009 | http://snomed.info/sct | Congenital malposition of innominate artery (disorder) |
93337001 | http://snomed.info/sct | Congenital malposition of nares (disorder) |
93339003 | http://snomed.info/sct | Congenital malposition of nasal septum (disorder) |
93340001 | http://snomed.info/sct | Congenital malposition of nose (disorder) |
93347003 | http://snomed.info/sct | Congenital malposition of pulmonary artery (disorder) |
93353003 | http://snomed.info/sct | Congenital malposition of subclavian artery (disorder) |
93376000 | http://snomed.info/sct | Congenital misalignment of palate rugae (disorder) |
93385000 | http://snomed.info/sct | Congenital stenosis of innominate artery (disorder) |
93387008 | http://snomed.info/sct | Congenital stenosis of stomach (disorder) |
93388003 | http://snomed.info/sct | Congenital stenosis of subclavian artery (disorder) |
93390002 | http://snomed.info/sct | Congenital ocular coloboma (disorder) |
93391003 | http://snomed.info/sct | Congenital protrusion of tongue (disorder) |
93392005 | http://snomed.info/sct | Congenital short growth of innominate artery (disorder) |
93557001 | http://snomed.info/sct | Holorachischisis (disorder) |
94703000 | http://snomed.info/sct | Multiple intracardiac shunts (disorder) |
95238006 | http://snomed.info/sct | Reverse posterior crossbite (disorder) |
95241002 | http://snomed.info/sct | Rhinocephaly (disorder) |
95266003 | http://snomed.info/sct | Single naris (disorder) |
95286004 | http://snomed.info/sct | Supernumerary azygos vein (disorder) |
95462004 | http://snomed.info/sct | Anomaly of sex chromosome (disorder) |
95463009 | http://snomed.info/sct | Congenital anomaly of joint (disorder) |
95466001 | http://snomed.info/sct | Congenital perforation of nasal septum (disorder) |
95470009 | http://snomed.info/sct | Congenital anomaly of digestive tract (disorder) |
95471008 | http://snomed.info/sct | Congenital arteriovenous malformation of gastrointestinal tract (disorder) |
95472001 | http://snomed.info/sct | Multiple gastrointestinal atresias (disorder) |
95477007 | http://snomed.info/sct | Congenital degeneration of nervous system (disorder) |
95610008 | http://snomed.info/sct | Congenital brain damage (disorder) |
95652003 | http://snomed.info/sct | Congenital flaccid paralysis (disorder) |
9660004 | http://snomed.info/sct | Congenital stenosis of trachea (disorder) |
9740002 | http://snomed.info/sct | Macroencephaly (disorder) |
9839007 | http://snomed.info/sct | Anomaly of chromosome pair 20 (disorder) |
9904008 | http://snomed.info/sct | Congenital anomaly of cardiovascular system (disorder) |
Produced 08 Sep 2023