| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113883.3.3616.200.110.102.6155 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.3616.200.110.102.6155 |
| version | 20230211 |
| status | active |
| publisher | Clinical Architecture |
| name | COVID19SNOMEDValueSetForInbornErrorsOfMetabolism |
| title | COVID19 SNOMED Value Set for Inborn Errors of Metabolism |
| date | 2023-06-21T18:16:37-04:00 |
| Usages | (none) |
This value set contains 671 concepts
| Code | System | Display |
| 1003847003 | http://snomed.info/sct | Pyruvate dehydrogenase phosphatase deficiency (disorder) |
| 1003849000 | http://snomed.info/sct | Pyruvate dehydrogenase complex E2 subunit deficiency (disorder) |
| 1003850000 | http://snomed.info/sct | Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) |
| 1003851001 | http://snomed.info/sct | Pyruvate dehydrogenase complex E1 beta subunit deficiency (disorder) |
| 1003858007 | http://snomed.info/sct | Rhizomelic chondrodysplasia punctata type 3 (disorder) |
| 1003860009 | http://snomed.info/sct | Rhizomelic chondrodysplasia punctata type 2 (disorder) |
| 1003862001 | http://snomed.info/sct | Rhizomelic chondrodysplasia punctata type 1 (disorder) |
| 1003938005 | http://snomed.info/sct | Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) |
| 10170007 | http://snomed.info/sct | Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder) |
| 10741005 | http://snomed.info/sct | Lipid storage disease (disorder) |
| 111307005 | http://snomed.info/sct | Leprechaunism syndrome (disorder) |
| 111382002 | http://snomed.info/sct | Chemically-induced lipidosis (disorder) |
| 111383007 | http://snomed.info/sct | Dysmorphic sialidosis, juvenile form (disorder) |
| 111385000 | http://snomed.info/sct | Tay-Sachs disease (disorder) |
| 111396008 | http://snomed.info/sct | Chédiak-Higashi syndrome (disorder) |
| 111567006 | http://snomed.info/sct | Refetoff syndrome (disorder) |
| 11160000 | http://snomed.info/sct | Brown oculocutaneous albinism (disorder) |
| 11179002 | http://snomed.info/sct | Glycogen storage disease, type IV (disorder) |
| 11380006 | http://snomed.info/sct | Mucopolysaccharidosis (disorder) |
| 1155842003 | http://snomed.info/sct | Oligosaccharidosis (disorder) |
| 1156181008 | http://snomed.info/sct | Adrenocorticotropic hormone resistance syndrome (disorder) |
| 1156591005 | http://snomed.info/sct | Fatty acid oxidation defect (disorder) |
| 1156813002 | http://snomed.info/sct | Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) |
| 1162916008 | http://snomed.info/sct | Glycogen storage disease due to muscle beta-enolase deficiency (disorder) |
| 1172605003 | http://snomed.info/sct | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder) |
| 1172627007 | http://snomed.info/sct | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) |
| 1172683008 | http://snomed.info/sct | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) |
| 1172703004 | http://snomed.info/sct | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) |
| 1172839002 | http://snomed.info/sct | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) |
| 1172841001 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 30 (disorder) |
| 1172843003 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 29 (disorder) |
| 1172844009 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 27 (disorder) |
| 1172966001 | http://snomed.info/sct | Multiple carboxylase deficiency (disorder) |
| 1173034002 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 26 (disorder) |
| 1173035001 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 25 (disorder) |
| 1173036000 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 23 (disorder) |
| 1177118004 | http://snomed.info/sct | Laminopathy with premature aging (disorder) |
| 1186809004 | http://snomed.info/sct | Glycogen storage disease due to lactate dehydrogenase deficiency (disorder) |
| 1186810009 | http://snomed.info/sct | Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 (disorder) |
| 1187113001 | http://snomed.info/sct | Mucopolysaccharidosis-like plus disease (disorder) |
| 1187171005 | http://snomed.info/sct | Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder) |
| 1187174002 | http://snomed.info/sct | Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) |
| 1187250005 | http://snomed.info/sct | Seizures, scoliosis, macrocephaly syndrome (disorder) |
| 1187461004 | http://snomed.info/sct | Glycogen storage disease due to aldolase A deficiency (disorder) |
| 1187462006 | http://snomed.info/sct | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) |
| 1187511005 | http://snomed.info/sct | Neonatal form of carnitine palmitoyltransferase II deficiency (disorder) |
| 1187514002 | http://snomed.info/sct | Myopathic form of carnitine palmitoyltransferase II deficiency (disorder) |
| 1187522009 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX26 mutation (disorder) |
| 1187523004 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX3 mutation (disorder) |
| 1187524005 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX19 mutation (disorder) |
| 1187525006 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX2 mutation (disorder) |
| 1187526007 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX16 mutation (disorder) |
| 1187527003 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX13 mutation (disorder) |
| 1187528008 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX14 mutation (disorder) |
| 1187529000 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX10 mutation (disorder) |
| 1187530005 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX12 mutation (disorder) |
| 1187532002 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX1 mutation (disorder) |
| 1187534001 | http://snomed.info/sct | Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder) |
| 1187536004 | http://snomed.info/sct | Severe infantile form of carnitine palmitoyltransferase II deficiency (disorder) |
| 1187541007 | http://snomed.info/sct | Beta chain electron transfer flavoprotein deficiency (disorder) |
| 1187542000 | http://snomed.info/sct | Alpha chain electron transfer flavoprotein deficiency (disorder) |
| 1187548001 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX5 mutation (disorder) |
| 1187550009 | http://snomed.info/sct | Peroxisome biogenesis disorder due to PEX6 mutation (disorder) |
| 1187616008 | http://snomed.info/sct | Deficiency of galactose mutarotase (disorder) |
| 1187623009 | http://snomed.info/sct | Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) |
| 1196869004 | http://snomed.info/sct | Mitochondrial respiratory chain complex IV assembly gene defect (disorder) |
| 1196870003 | http://snomed.info/sct | Mitochondrial respiratory chain complex II structural subunit gene defect (disorder) |
| 1196871004 | http://snomed.info/sct | Mitochondrial respiratory chain complex III assembly gene defect (disorder) |
| 1196872006 | http://snomed.info/sct | Mitochondrial respiratory chain complex I structural subunit gene defect (disorder) |
| 1196873001 | http://snomed.info/sct | Mitochondrial respiratory chain complex II assembly gene defect (disorder) |
| 1196948002 | http://snomed.info/sct | Mitochondrial respiratory chain complex I assembly gene defect (disorder) |
| 1196949005 | http://snomed.info/sct | Mitochondrial respiratory chain complex III structural subunit gene defect (disorder) |
| 1196950005 | http://snomed.info/sct | Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder) |
| 1197052008 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) |
| 1197360001 | http://snomed.info/sct | X-linked dominant erythropoietic protoporphyria (disorder) |
| 1197430005 | http://snomed.info/sct | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) |
| 1197753005 | http://snomed.info/sct | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder) |
| 1208485009 | http://snomed.info/sct | Multiple mitochondrial dysfunctions syndrome type 1 (disorder) |
| 1208486005 | http://snomed.info/sct | Multiple mitochondrial dysfunctions syndrome type 2 (disorder) |
| 1208620009 | http://snomed.info/sct | Multiple mitochondrial dysfunctions syndrome type 3 (disorder) |
| 1208621008 | http://snomed.info/sct | Multiple mitochondrial dysfunctions syndrome type 4 (disorder) |
| 1208738002 | http://snomed.info/sct | Transmembrane protein 199 congenital disorder of glycosylation (disorder) |
| 1208747005 | http://snomed.info/sct | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) |
| 1208936008 | http://snomed.info/sct | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) |
| 1208937004 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder) |
| 1216939003 | http://snomed.info/sct | Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder) |
| 1216941002 | http://snomed.info/sct | Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) |
| 1217212009 | http://snomed.info/sct | Mitochondrial pyruvate carrier deficiency (disorder) |
| 1220574003 | http://snomed.info/sct | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) |
| 1220589007 | http://snomed.info/sct | Keppen Lubinsky syndrome (disorder) |
| 1220595008 | http://snomed.info/sct | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) |
| 1222658006 | http://snomed.info/sct | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) |
| 1222662000 | http://snomed.info/sct | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) |
| 12246008 | http://snomed.info/sct | Acute neuronopathic Gaucher's disease (disorder) |
| 1228849007 | http://snomed.info/sct | Polyglucosan body myopathy type 2 (disorder) |
| 1230003009 | http://snomed.info/sct | Heme oxygenase-1 deficiency (disorder) |
| 1230272009 | http://snomed.info/sct | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) |
| 1230273004 | http://snomed.info/sct | Megaconial congenital muscular dystrophy (disorder) |
| 1230303001 | http://snomed.info/sct | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) |
| 1231141008 | http://snomed.info/sct | Mannosephosphate isomerase congenital disorder of glycosylation (disorder) |
| 1231309005 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
| 124115002 | http://snomed.info/sct | Deficiency of L-lactate dehydrogenase (disorder) |
| 124116001 | http://snomed.info/sct | Deficiency of D-lactate dehydrogenase (disorder) |
| 124122005 | http://snomed.info/sct | Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) |
| 124141008 | http://snomed.info/sct | Deficiency of L-lactate dehydrogenase (cytochrome) (disorder) |
| 124166007 | http://snomed.info/sct | Deficiency of butyryl-CoA dehydrogenase (disorder) |
| 124184009 | http://snomed.info/sct | Deficiency of cytochrome-b>5< reductase (disorder) |
| 124185005 | http://snomed.info/sct | Deficiency of reduced nicotinamide adenine dinucleotide phosphate-ferrihemoprotein reductase (disorder) |
| 124186006 | http://snomed.info/sct | Deficiency of NAPH cytochrome-c>2< reductase (disorder) |
| 124239003 | http://snomed.info/sct | Deficiency of guanidinoacetate methyltransferase (disorder) |
| 124257002 | http://snomed.info/sct | Deficiency of carnitine acetyltransferase (disorder) |
| 124611007 | http://snomed.info/sct | Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) |
| 124621004 | http://snomed.info/sct | Deficiency of enoyl-coenzyme A hydratase (disorder) |
| 124628005 | http://snomed.info/sct | Deficiency of histidine ammonia-lyase (disorder) |
| 124680001 | http://snomed.info/sct | Deficiency of methylmalonyl-coenzyme A mutase (disorder) |
| 128190004 | http://snomed.info/sct | Inherited metabolic disorder of nervous system (disorder) |
| 128596003 | http://snomed.info/sct | Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 13144005 | http://snomed.info/sct | Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) |
| 14210003 | http://snomed.info/sct | Lipofuscinosis (disorder) |
| 14637005 | http://snomed.info/sct | Late-infantile neuronal ceroid lipofuscinosis (disorder) |
| 15059000 | http://snomed.info/sct | Retinal dystrophy in systemic lipidosis (disorder) |
| 15346004 | http://snomed.info/sct | Familial hypoalphalipoproteinemia (disorder) |
| 15890002 | http://snomed.info/sct | Albinism (disorder) |
| 15892005 | http://snomed.info/sct | Mucopolysaccharidosis III-D (disorder) |
| 15978003 | http://snomed.info/sct | Glycogen storage disease, muscular form (disorder) |
| 15991002 | http://snomed.info/sct | Severe steroid 21-hydroxylase deficiency (disorder) |
| 16517004 | http://snomed.info/sct | Cerebral lipidosis (disorder) |
| 16652001 | http://snomed.info/sct | Fabry's disease (disorder) |
| 17827007 | http://snomed.info/sct | Cross syndrome (disorder) |
| 17885001 | http://snomed.info/sct | Iodotyrosine deiodination defect (disorder) |
| 17901006 | http://snomed.info/sct | Primary hyperoxaluria (disorder) |
| 180485001 | http://snomed.info/sct | Kerasin thesaurismosis (disorder) |
| 18756002 | http://snomed.info/sct | Juvenile GM1 gangliosidosis (disorder) |
| 18927009 | http://snomed.info/sct | Niemann-Pick disease, type D (disorder) |
| 190304001 | http://snomed.info/sct | Dyshormonogenic goiter (disorder) |
| 190681003 | http://snomed.info/sct | Cystinosis (disorder) |
| 190687004 | http://snomed.info/sct | Phenylketonuria (disorder) |
| 190760009 | http://snomed.info/sct | Disorders of pyruvate metabolism and gluconeogenesis (disorder) |
| 190764000 | http://snomed.info/sct | Essential pentosuria (disorder) |
| 190859005 | http://snomed.info/sct | Hypophosphatasia (disorder) |
| 190948002 | http://snomed.info/sct | Defect in post-translational modification of lysosomal enzymes (disorder) |
| 190953007 | http://snomed.info/sct | Trypsinogen deficiency (disorder) |
| 192787004 | http://snomed.info/sct | B variant hexosaminidase A deficiency (disorder) |
| 192788009 | http://snomed.info/sct | Retinal dystrophy in cerebroretinal lipidosis (disorder) |
| 195025008 | http://snomed.info/sct | Cardiac glycogenosis (disorder) |
| 19604005 | http://snomed.info/sct | Triglyceride storage disease with ichthyosis (disorder) |
| 20756002 | http://snomed.info/sct | Adult hypophosphatasia (disorder) |
| 21367009 | http://snomed.info/sct | Autosomal dominant variant form of albumin (disorder) |
| 21764004 | http://snomed.info/sct | Renal carnitine transport defect (disorder) |
| 2241003 | http://snomed.info/sct | X-linked absence of thyroxine-binding globulin (disorder) |
| 22558005 | http://snomed.info/sct | Iodide transport defect (disorder) |
| 22830006 | http://snomed.info/sct | Juvenile nephropathic cystinosis (disorder) |
| 22886006 | http://snomed.info/sct | Glutaric aciduria, type 2 (disorder) |
| 22933009 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder) |
| 23156007 | http://snomed.info/sct | Mild maple syrup urine disease (disorder) |
| 233720006 | http://snomed.info/sct | Pulmonary lipid storage disease (disorder) |
| 23501004 | http://snomed.info/sct | Arginase deficiency (disorder) |
| 23536000 | http://snomed.info/sct | Iodotyrosyl coupling defect (disorder) |
| 23585005 | http://snomed.info/sct | Disorder of lysosomal enzyme (disorder) |
| 235908005 | http://snomed.info/sct | Glycogen storage disease type IX (disorder) |
| 235915002 | http://snomed.info/sct | Synthetic defect of bile acids (disorder) |
| 236466005 | http://snomed.info/sct | Congenital Fanconi syndrome (disorder) |
| 237554005 | http://snomed.info/sct | Familial dyshormonogenetic goiter (disorder) |
| 237555006 | http://snomed.info/sct | Hypothyroidism due to iodide trapping defect (disorder) |
| 237556007 | http://snomed.info/sct | Hypothyroidism due to iodide organification defect (disorder) |
| 237559000 | http://snomed.info/sct | Thyroid hormone resistance syndrome (disorder) |
| 237560005 | http://snomed.info/sct | Generalized thyroid hormone resistance (disorder) |
| 237919007 | http://snomed.info/sct | Minimal pigment oculocutaneous albinism (disorder) |
| 237920001 | http://snomed.info/sct | Temperature-sensitive oculocutaneous albinism (disorder) |
| 237945003 | http://snomed.info/sct | Complete deficiency of methylmalonyl-coenzyme A mutase (disorder) |
| 237946002 | http://snomed.info/sct | Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) |
| 237964009 | http://snomed.info/sct | Glycogen synthase deficiency (disorder) |
| 237965005 | http://snomed.info/sct | Phosphate transport defect (disorder) |
| 237966006 | http://snomed.info/sct | Glucose transport defect (disorder) |
| 237981000 | http://snomed.info/sct | Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder) |
| 237982007 | http://snomed.info/sct | Lactate dehydrogenase deficiency (disorder) |
| 237983002 | http://snomed.info/sct | Fumarase deficiency (disorder) |
| 237984008 | http://snomed.info/sct | Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
| 237985009 | http://snomed.info/sct | Pearson's syndrome (disorder) |
| 237986005 | http://snomed.info/sct | Disorder of mitochondrial respiratory chain complexes (disorder) |
| 237987001 | http://snomed.info/sct | Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) |
| 237988006 | http://snomed.info/sct | Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) |
| 237989003 | http://snomed.info/sct | Succinate-coenzyme Q reductase deficiency (disorder) |
| 237990007 | http://snomed.info/sct | Ubiquinone dehydrogenase deficiency (disorder) |
| 237993009 | http://snomed.info/sct | Combined complex deficiencies (disorder) |
| 237994003 | http://snomed.info/sct | Deletion and duplication of mitochondrial deoxyribonucleic acid (disorder) |
| 237995002 | http://snomed.info/sct | Depletion of mitochondrial deoxyribonucleic acid (disorder) |
| 237996001 | http://snomed.info/sct | Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 237997005 | http://snomed.info/sct | Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 237998000 | http://snomed.info/sct | Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) |
| 237999008 | http://snomed.info/sct | Mitochondrial trifunctional protein deficiency (disorder) |
| 238000002 | http://snomed.info/sct | Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase (disorder) |
| 238001003 | http://snomed.info/sct | Carnitine palmitoyltransferase I deficiency (disorder) |
| 238002005 | http://snomed.info/sct | Carnitine palmitoyltransferase II deficiency (disorder) |
| 238003000 | http://snomed.info/sct | Carnitine acylcarnitine translocase deficiency (disorder) |
| 238004006 | http://snomed.info/sct | Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) |
| 238018004 | http://snomed.info/sct | Total hexosaminidase deficiency - infantile (disorder) |
| 238019007 | http://snomed.info/sct | Total hexosaminidase deficiency - juvenile (disorder) |
| 238020001 | http://snomed.info/sct | Total hexosaminidase deficiency - adult (disorder) |
| 238021002 | http://snomed.info/sct | B variant hexosaminidase A deficiency - infantile (disorder) |
| 238022009 | http://snomed.info/sct | B variant hexosaminidase A deficiency - juvenile (disorder) |
| 238023004 | http://snomed.info/sct | B variant hexosaminidase A deficiency - adult (disorder) |
| 238024005 | http://snomed.info/sct | B1 variant hexosaminidase A deficiency (disorder) |
| 238025006 | http://snomed.info/sct | GM1 gangliosidosis (disorder) |
| 238026007 | http://snomed.info/sct | Infantile GM1 gangliosidosis (disorder) |
| 238027003 | http://snomed.info/sct | Adult GM1 gangliosidosis (disorder) |
| 238033007 | http://snomed.info/sct | 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder) |
| 238035000 | http://snomed.info/sct | Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) |
| 238043005 | http://snomed.info/sct | Disorder of glycosaminoglycan metabolism (disorder) |
| 238044004 | http://snomed.info/sct | Mucopolysaccharidosis type IVB (disorder) |
| 238045003 | http://snomed.info/sct | Disorder of glycoprotein metabolism (disorder) |
| 238047006 | http://snomed.info/sct | Beta-D-mannosidosis (disorder) |
| 238048001 | http://snomed.info/sct | Alpha-N-acetylgalactosaminidase deficiency (disorder) |
| 238049009 | http://snomed.info/sct | Carbohydrate-deficient glycoprotein syndrome (disorder) |
| 238050009 | http://snomed.info/sct | Disorder of sialic acid metabolism (disorder) |
| 238051008 | http://snomed.info/sct | Sialuria (disorder) |
| 238053006 | http://snomed.info/sct | Homozygous erythropoietic protoporphyria (disorder) |
| 238059005 | http://snomed.info/sct | Disorder of peroxisomal function (disorder) |
| 238060000 | http://snomed.info/sct | General loss of peroxisomal function (disorder) |
| 238061001 | http://snomed.info/sct | Neonatal adrenoleukodystrophy (disorder) |
| 238062008 | http://snomed.info/sct | Infantile Refsum's disease (disorder) |
| 238063003 | http://snomed.info/sct | Loss of multiple peroxisomal functions (disorder) |
| 238064009 | http://snomed.info/sct | Zellweger's-like syndrome (disorder) |
| 238065005 | http://snomed.info/sct | Pseudoinfantile Refsum's disease (disorder) |
| 238066006 | http://snomed.info/sct | Loss of single peroxisomal function (disorder) |
| 238067002 | http://snomed.info/sct | Peroxisomal thiolase deficiency (disorder) |
| 238068007 | http://snomed.info/sct | Bifunctional peroxisomal enzyme deficiency (disorder) |
| 238069004 | http://snomed.info/sct | Acyl-coenzyme A oxidase deficiency (disorder) |
| 238070003 | http://snomed.info/sct | Glutaryl-coenzyme A oxidase deficiency (disorder) |
| 238071004 | http://snomed.info/sct | Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder) |
| 238072006 | http://snomed.info/sct | Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) |
| 238073001 | http://snomed.info/sct | Isolated alkyldihydroxyacetone phosphate synthase deficiency (disorder) |
| 238074007 | http://snomed.info/sct | Xanthomatosis, familial (disorder) |
| 238093009 | http://snomed.info/sct | Familial hypobetalipoproteinemia - homozygous form (disorder) |
| 238094003 | http://snomed.info/sct | Familial hypobetalipoproteinemia - heterozygous form (disorder) |
| 23849003 | http://snomed.info/sct | Sandhoff disease (disorder) |
| 238870004 | http://snomed.info/sct | Hutchinson-Gilford syndrome (disorder) |
| 238871000 | http://snomed.info/sct | Metageria (disorder) |
| 238872007 | http://snomed.info/sct | Acrogeria (disorder) |
| 238874008 | http://snomed.info/sct | Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) |
| 238875009 | http://snomed.info/sct | Wrinkly skin syndrome (disorder) |
| 240095001 | http://snomed.info/sct | Lipid storage myopathy (disorder) |
| 24308003 | http://snomed.info/sct | Cystathionine beta-synthase deficiency (disorder) |
| 24661004 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency class III variant anemia (disorder) |
| 25010000 | http://snomed.info/sct | Benign adult cystinosis (disorder) |
| 25362006 | http://snomed.info/sct | Phytanic acid storage disease (disorder) |
| 254069004 | http://snomed.info/sct | Dysostosis multiplex (disorder) |
| 254116003 | http://snomed.info/sct | Geroderma osteodysplastica (disorder) |
| 25792000 | http://snomed.info/sct | Kearns-Sayre syndrome (disorder) |
| 26015003 | http://snomed.info/sct | Maroteaux-Lamy syndrome, intermediate form (disorder) |
| 26132002 | http://snomed.info/sct | 5-Oxoprolinase deficiency (disorder) |
| 26336006 | http://snomed.info/sct | Tyrosinase-positive oculocutaneous albinism (disorder) |
| 26399002 | http://snomed.info/sct | Ocular albinism (disorder) |
| 265569002 | http://snomed.info/sct | Aland eye disease and ocular albinism (disorder) |
| 267424007 | http://snomed.info/sct | Generalized glycogenosis (disorder) |
| 26745009 | http://snomed.info/sct | Mucopolysaccharidosis type I-H/S (disorder) |
| 267454002 | http://snomed.info/sct | Acatalasemia (disorder) |
| 274864009 | http://snomed.info/sct | Glycogen storage disease, type II (disorder) |
| 27503000 | http://snomed.info/sct | Gilbert's syndrome (disorder) |
| 275598004 | http://snomed.info/sct | Familial lipoprotein lipase deficiency (disorder) |
| 27642008 | http://snomed.info/sct | Dysmorphic sialidosis, congenital form (disorder) |
| 27718001 | http://snomed.info/sct | Maple syrup urine disease (disorder) |
| 277893002 | http://snomed.info/sct | Carbohydrate-deficient glycoprotein syndrome type I (disorder) |
| 277894008 | http://snomed.info/sct | Carbohydrate-deficient glycoprotein syndrome type II (disorder) |
| 277895009 | http://snomed.info/sct | Carbohydrate-deficient glycoprotein syndrome type III (disorder) |
| 278991002 | http://snomed.info/sct | Sialic storage disease (disorder) |
| 279081001 | http://snomed.info/sct | Dysostosis multiplex group (disorder) |
| 28093001 | http://snomed.info/sct | Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) |
| 28183005 | http://snomed.info/sct | Fructose-biphosphatase deficiency (disorder) |
| 28212002 | http://snomed.info/sct | Intestinal lipofuscinosis (disorder) |
| 28259009 | http://snomed.info/sct | Crigler-Najjar syndrome (disorder) |
| 286920009 | http://snomed.info/sct | Amino acid/carbohydrate metabolic disorder (disorder) |
| 29291001 | http://snomed.info/sct | Glycogen storage disease, type VI (disorder) |
| 29633007 | http://snomed.info/sct | Glycogen storage disease (disorder) |
| 297226004 | http://snomed.info/sct | Disorder of creatine synthesis (disorder) |
| 297252005 | http://snomed.info/sct | Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder) |
| 297253000 | http://snomed.info/sct | Cardiac glycogen phosphorylase kinase deficiency (disorder) |
| 297254006 | http://snomed.info/sct | Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder) |
| 297255007 | http://snomed.info/sct | Hepatic glycogen phosphorylase kinase deficiency (disorder) |
| 29914000 | http://snomed.info/sct | Dihydrolipoamide dehydrogenase deficiency (disorder) |
| 30102006 | http://snomed.info/sct | Glucose-6-phosphate transport defect (disorder) |
| 30174008 | http://snomed.info/sct | Childhood hypophosphatasia (disorder) |
| 30188007 | http://snomed.info/sct | Alpha-1-antitrypsin deficiency (disorder) |
| 303094000 | http://snomed.info/sct | Propionyl-coenzyme A carboxylase deficiency pccA complementation group (disorder) |
| 303095004 | http://snomed.info/sct | Propionyl-coenzyme A carboxylase deficiency pccBC complementation group (disorder) |
| 307127004 | http://snomed.info/sct | Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) |
| 307128009 | http://snomed.info/sct | Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) |
| 307130006 | http://snomed.info/sct | 3-Ketoacyl-coenzyme A triolase deficiency (disorder) |
| 312857009 | http://snomed.info/sct | Alpha-2-antitrypsin deficiency (disorder) |
| 31368008 | http://snomed.info/sct | Thiamin-responsive maple syrup urine disease (disorder) |
| 32891000 | http://snomed.info/sct | Rotor syndrome (disorder) |
| 33316007 | http://snomed.info/sct | GM2 gangliosidosis (disorder) |
| 34420000 | http://snomed.info/sct | Storage disease (disorder) |
| 34566007 | http://snomed.info/sct | Sialic acid storage disease, severe infantile type (disorder) |
| 34852006 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency class II variant anemia (disorder) |
| 35691006 | http://snomed.info/sct | Combined deficiency of sialidase AND beta galactosidase (disorder) |
| 360348000 | http://snomed.info/sct | Pituitary thyroid hormone resistance (disorder) |
| 360353005 | http://snomed.info/sct | Thyrotoxicosis due to pituitary thyroid hormone resistance (disorder) |
| 360369003 | http://snomed.info/sct | Holocarboxylase synthase deficiency (disorder) |
| 361010007 | http://snomed.info/sct | Deficiency of proline dipeptidase (disorder) |
| 361203007 | http://snomed.info/sct | Malonic aciduria (disorder) |
| 363041004 | http://snomed.info/sct | Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder) |
| 366951000119109 | http://snomed.info/sct | Adolescent X-linked adrenoleukodystrophy (disorder) |
| 366961000119106 | http://snomed.info/sct | Albinism co-occurrent with hematologic disorder (disorder) |
| 367041000119108 | http://snomed.info/sct | Childhood cerebral X-linked adrenoleukodystrophy (disorder) |
| 367406009 | http://snomed.info/sct | Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase (disorder) |
| 36799008 | http://snomed.info/sct | Glutamate-cysteine ligase deficiency (disorder) |
| 36985004 | http://snomed.info/sct | Inherited disorder of thyroid metabolism (disorder) |
| 37666005 | http://snomed.info/sct | Glycogen storage disease type X (disorder) |
| 378007 | http://snomed.info/sct | Morquio syndrome (disorder) |
| 38795005 | http://snomed.info/sct | Sialidosis (disorder) |
| 39112005 | http://snomed.info/sct | Glutathione synthase deficiency with 5-oxoprolinuria (disorder) |
| 39390005 | http://snomed.info/sct | Niemann-Pick disease, type B (disorder) |
| 399045007 | http://snomed.info/sct | Juvenile fucosidosis (disorder) |
| 399087009 | http://snomed.info/sct | Propionic acidemia, type I (disorder) |
| 399149003 | http://snomed.info/sct | Propionic acidemia, type II (disorder) |
| 399249008 | http://snomed.info/sct | Adult fucosidosis (disorder) |
| 39929009 | http://snomed.info/sct | Disorder of fatty acid metabolism (disorder) |
| 399947002 | http://snomed.info/sct | Progeroid short stature with pigmented nevi (disorder) |
| 399959003 | http://snomed.info/sct | Premature aging syndrome (disorder) |
| 400128006 | http://snomed.info/sct | Lethal tight skin contracture syndrome (disorder) |
| 402788005 | http://snomed.info/sct | Genetic disorder of lipid storage (disorder) |
| 403805009 | http://snomed.info/sct | Albinism-deafness syndrome of Tietz (disorder) |
| 403806005 | http://snomed.info/sct | Ziprkowski-Margolis syndrome (disorder) |
| 403807001 | http://snomed.info/sct | Phylloid hypomelanosis (disorder) |
| 405287008 | http://snomed.info/sct | Intermediate maple syrup urine disease (disorder) |
| 405288003 | http://snomed.info/sct | Intermittent maple syrup urine disease (disorder) |
| 40751003 | http://snomed.info/sct | Persistent hyperphenylalaninemia AND tyrosinemia (disorder) |
| 40873003 | http://snomed.info/sct | Sulfite oxidase deficiency syndrome (disorder) |
| 40951006 | http://snomed.info/sct | Primary hyperoxaluria, type II (disorder) |
| 41013004 | http://snomed.info/sct | Argininosuccinate lyase deficiency (disorder) |
| 41300001 | http://snomed.info/sct | X-linked reduction of thyroxine-binding globulin (disorder) |
| 41527003 | http://snomed.info/sct | Glycogen storage disease type VIII (disorder) |
| 41572006 | http://snomed.info/sct | Mucopolysaccharidosis III-A (disorder) |
| 41797007 | http://snomed.info/sct | 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) |
| 419097006 | http://snomed.info/sct | Danon disease (disorder) |
| 42012007 | http://snomed.info/sct | Neuronal ceroid lipofuscinosis (disorder) |
| 42484009 | http://snomed.info/sct | Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) |
| 426387005 | http://snomed.info/sct | Long-chain fatty acid transport deficiency (disorder) |
| 42930003 | http://snomed.info/sct | Inborn error of amino acid metabolism (disorder) |
| 43449002 | http://snomed.info/sct | Thyroglobulin proteolysis defect (disorder) |
| 43465001 | http://snomed.info/sct | Inborn error of lipoprotein metabolism (disorder) |
| 43916004 | http://snomed.info/sct | Mucopolysaccharidosis type VII (disorder) |
| 440009 | http://snomed.info/sct | Persistent hyperphenylalaninemia (disorder) |
| 44231009 | http://snomed.info/sct | Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) |
| 444707001 | http://snomed.info/sct | Glycogen storage disease type Ia (disorder) |
| 444944006 | http://snomed.info/sct | Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) |
| 44553005 | http://snomed.info/sct | Dubin-Johnson syndrome (disorder) |
| 446923008 | http://snomed.info/sct | Lipoprotein glomerulopathy (disorder) |
| 45414006 | http://snomed.info/sct | Glucocorticoid deficiency with achalasia (disorder) |
| 459062008 | http://snomed.info/sct | Fatal congenital nonlysosomal heart glycogenosis (disorder) |
| 459063003 | http://snomed.info/sct | Congenital disorder of glycosylation type Ia (disorder) |
| 46683007 | http://snomed.info/sct | Pyruvate dehydrogenase complex deficiency (disorder) |
| 4702003 | http://snomed.info/sct | Inherited disorder of folate metabolism (disorder) |
| 47526003 | http://snomed.info/sct | Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) |
| 47719001 | http://snomed.info/sct | Hypervalinemia (disorder) |
| 47757001 | http://snomed.info/sct | Corticosterone 18-monooxygenase deficiency (disorder) |
| 4887000 | http://snomed.info/sct | Hypertyrosinemia, Richner-Hanhart type (disorder) |
| 49013001 | http://snomed.info/sct | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) |
| 4920001 | http://snomed.info/sct | Deficiency of acetyl-coenzyme A carboxylase (disorder) |
| 49227001 | http://snomed.info/sct | Phosphatidylcholine-sterol acyltransferase deficiency (disorder) |
| 49562005 | http://snomed.info/sct | Adult chronic GM2 gangliosidosis (disorder) |
| 49748000 | http://snomed.info/sct | Succinate-semialdehyde dehydrogenase deficiency (disorder) |
| 49973006 | http://snomed.info/sct | Familial lipoprotein deficiency (disorder) |
| 50375007 | http://snomed.info/sct | Thyroid hormone responsiveness defect (disorder) |
| 50658006 | http://snomed.info/sct | Testosterone 17-beta-dehydrogenase deficiency (disorder) |
| 50967008 | http://snomed.info/sct | Gangliosidosis (disorder) |
| 51022005 | http://snomed.info/sct | Erythropoietic protoporphyria (disorder) |
| 51626007 | http://snomed.info/sct | Werner syndrome (disorder) |
| 51984006 | http://snomed.info/sct | Dysmorphic sialidosis, infantile form (disorder) |
| 52165006 | http://snomed.info/sct | Niemann-Pick disease, type A (disorder) |
| 52186006 | http://snomed.info/sct | Dysmorphic sialidosis (disorder) |
| 52677002 | http://snomed.info/sct | Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) |
| 52724003 | http://snomed.info/sct | Iodide oxidation defect (disorder) |
| 53210006 | http://snomed.info/sct | Inborn error of pyruvate metabolism (disorder) |
| 5335002 | http://snomed.info/sct | Phosphoenolpyruvate carboxykinase deficiency (disorder) |
| 54064006 | http://snomed.info/sct | Classical maple syrup urine disease (disorder) |
| 54470008 | http://snomed.info/sct | 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) |
| 54898003 | http://snomed.info/sct | Multiple sulfatase deficiency (disorder) |
| 54954004 | http://snomed.info/sct | Aspartylglucosaminuria (disorder) |
| 55236002 | http://snomed.info/sct | Infantile hypophosphatasia (disorder) |
| 55296004 | http://snomed.info/sct | X-linked excess of thyroxine-binding globulin (disorder) |
| 55341000119107 | http://snomed.info/sct | Carnitine deficiency due to inborn error of metabolism (disorder) |
| 55711009 | http://snomed.info/sct | Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) |
| 55731008 | http://snomed.info/sct | Arylsulfatase deficiency without metachromatic leukodystrophy (disorder) |
| 55783001 | http://snomed.info/sct | Muscle L-lactate dehydrogenase deficiency (disorder) |
| 55912009 | http://snomed.info/sct | Glycogen storage disease, type V (disorder) |
| 56041007 | http://snomed.info/sct | Hypothyroidism due to defect in thyroid hormone synthesis (disorder) |
| 56112001 | http://snomed.info/sct | Thyroxine transport defect (disorder) |
| 5655007 | http://snomed.info/sct | Inherited disorder of bilirubin metabolism (disorder) |
| 56661000 | http://snomed.info/sct | Intestinal enteropeptidase deficiency (disorder) |
| 5667009 | http://snomed.info/sct | Hunter's syndrome, mild form (disorder) |
| 56692003 | http://snomed.info/sct | Rhizomelic chondrodysplasia punctata syndrome (disorder) |
| 57119000 | http://snomed.info/sct | Hyperammonemia, type III (disorder) |
| 57218003 | http://snomed.info/sct | Cholesterol ester storage disease (disorder) |
| 57514000 | http://snomed.info/sct | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) |
| 57835009 | http://snomed.info/sct | Hepatic methionine adenosyltransferase deficiency (disorder) |
| 57863006 | http://snomed.info/sct | Acid phosphatase deficiency (disorder) |
| 58112007 | http://snomed.info/sct | Mannosidosis, type II (disorder) |
| 58256000 | http://snomed.info/sct | Dihydropteridine reductase deficiency (disorder) |
| 58258004 | http://snomed.info/sct | Infantile neuronal ceroid lipofuscinosis (disorder) |
| 58263000 | http://snomed.info/sct | Maroteaux-Lamy syndrome, severe form (disorder) |
| 58459009 | http://snomed.info/sct | Sphingomyelin/cholesterol lipidosis (disorder) |
| 58610003 | http://snomed.info/sct | Leber's optic atrophy (disorder) |
| 58618005 | http://snomed.info/sct | Familial disease with storage of sterols (other than cholesterol) (disorder) |
| 5963005 | http://snomed.info/sct | Subacute neuronopathic Gaucher's disease (disorder) |
| 59761008 | http://snomed.info/sct | Glutamate formiminotransferase deficiency (disorder) |
| 59990008 | http://snomed.info/sct | Mucopolysaccharidosis III-B (disorder) |
| 60045007 | http://snomed.info/sct | Moderate steroid 21-hydroxylase deficiency (disorder) |
| 60193003 | http://snomed.info/sct | Familial hypobetalipoproteinemia (disorder) |
| 6075009 | http://snomed.info/sct | Glycogen storage disease, hepatic form (disorder) |
| 60952007 | http://snomed.info/sct | Urocanate hydratase deficiency (disorder) |
| 61071003 | http://snomed.info/sct | Proline dehydrogenase deficiency (disorder) |
| 61172008 | http://snomed.info/sct | Infantile fucosidosis (disorder) |
| 61367005 | http://snomed.info/sct | Jarcho-Levin syndrome (disorder) |
| 61598006 | http://snomed.info/sct | Glycogenosis with glucoaminophosphaturia (disorder) |
| 61663001 | http://snomed.info/sct | Juvenile neuronal ceroid lipofuscinosis (disorder) |
| 61772003 | http://snomed.info/sct | Muscle phosphoglycerate mutase deficiency (disorder) |
| 62009002 | http://snomed.info/sct | Adult neuronal ceroid lipofuscinosis (disorder) |
| 62144003 | http://snomed.info/sct | Punctate oculocutaneous albinoidism (disorder) |
| 62216007 | http://snomed.info/sct | Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder) |
| 62311004 | http://snomed.info/sct | Mannosidosis, type I (disorder) |
| 62332007 | http://snomed.info/sct | Infantile nephropathic cystinosis (disorder) |
| 62403005 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) |
| 62440002 | http://snomed.info/sct | Infantile GM2 gangliosidosis (disorder) |
| 62578003 | http://snomed.info/sct | Congenital defect of folate absorption (disorder) |
| 63127008 | http://snomed.info/sct | Thyroglobulin synthesis defect (disorder) |
| 63246000 | http://snomed.info/sct | Cholestanol storage disease (disorder) |
| 63329001 | http://snomed.info/sct | Glycine dehydrogenase (decarboxylating) deficiency (disorder) |
| 63450009 | http://snomed.info/sct | Rufous albinism (disorder) |
| 63844009 | http://snomed.info/sct | Oculocutaneous albinism (disorder) |
| 64081000 | http://snomed.info/sct | Porphobilinogen synthase deficiency (disorder) |
| 64235006 | http://snomed.info/sct | Ethanolaminosis (disorder) |
| 64716005 | http://snomed.info/sct | Fucosidosis (disorder) |
| 6479008 | http://snomed.info/sct | Partial albinism (disorder) |
| 6483008 | http://snomed.info/sct | Tyrosinase-negative oculocutaneous albinism (disorder) |
| 64852002 | http://snomed.info/sct | Sarcosine dehydrogenase deficiency (disorder) |
| 65327002 | http://snomed.info/sct | Mucopolysaccharidosis type I-H (disorder) |
| 65389002 | http://snomed.info/sct | Adrenoleukodystrophy (disorder) |
| 65419005 | http://snomed.info/sct | Sitosterolemia with xanthomatosis (disorder) |
| 65520001 | http://snomed.info/sct | Primary hyperoxaluria, type I (disorder) |
| 65524005 | http://snomed.info/sct | Mannosidosis (disorder) |
| 65764006 | http://snomed.info/sct | Pseudo-Hurler polydystrophy (disorder) |
| 66185005 | http://snomed.info/sct | Autosomal dominant excess of transthyretin (disorder) |
| 66521008 | http://snomed.info/sct | Deficiency of cerebroside-sulfatase (disorder) |
| 66751000 | http://snomed.info/sct | Niemann-Pick disease, type C (disorder) |
| 66937008 | http://snomed.info/sct | Glycogen storage disease, type III (disorder) |
| 67434000 | http://snomed.info/sct | Cytochrome-c oxidase deficiency (disorder) |
| 67845009 | http://snomed.info/sct | Aminomethyltransferase deficiency (disorder) |
| 67854007 | http://snomed.info/sct | Maroteaux-Lamy syndrome, mild form (disorder) |
| 67855008 | http://snomed.info/sct | Niemann-Pick disease, type C, subacute form (disorder) |
| 68067009 | http://snomed.info/sct | Crigler-Najjar syndrome, type II (disorder) |
| 69080001 | http://snomed.info/sct | Propionic acidemia (disorder) |
| 69463008 | http://snomed.info/sct | Maroteaux-Lamy syndrome (disorder) |
| 69478001 | http://snomed.info/sct | Pancreatic colipase deficiency (disorder) |
| 699315005 | http://snomed.info/sct | Neutral lipid storage disease with myopathy (disorder) |
| 699328003 | http://snomed.info/sct | Myoclonic epilepsy myopathy sensory ataxia (disorder) |
| 700463002 | http://snomed.info/sct | Alpha-methylacyl-CoA racemase deficiency disorder (disorder) |
| 70199000 | http://snomed.info/sct | I-cell disease (disorder) |
| 702327009 | http://snomed.info/sct | Monocarboxylate transporter 8 deficiency (disorder) |
| 702365002 | http://snomed.info/sct | Combined malonic and methylmalonic aciduria (disorder) |
| 702440000 | http://snomed.info/sct | Cerebral creatine deficiency syndrome 3 (disorder) |
| 70348004 | http://snomed.info/sct | Pendred's syndrome (disorder) |
| 703526007 | http://snomed.info/sct | Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) |
| 703527003 | http://snomed.info/sct | TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
| 70528007 | http://snomed.info/sct | Mucolipidosis (disorder) |
| 70737009 | http://snomed.info/sct | Mucopolysaccharidosis type II (disorder) |
| 707551007 | http://snomed.info/sct | Pulmonary interstitial glycogenosis (disorder) |
| 708672004 | http://snomed.info/sct | Odontohypophosphatasia (disorder) |
| 709412006 | http://snomed.info/sct | Congenital disorder of glycosylation type 1c (disorder) |
| 711155008 | http://snomed.info/sct | ALG12-congenital disorder of glycosylation (disorder) |
| 711409002 | http://snomed.info/sct | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
| 71253000 | http://snomed.info/sct | Tay-Sachs disease, variant AB (disorder) |
| 715338007 | http://snomed.info/sct | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) |
| 715632003 | http://snomed.info/sct | Oculocutaneous albinism type 4 (disorder) |
| 715633008 | http://snomed.info/sct | Atypical Werner syndrome (disorder) |
| 715923003 | http://snomed.info/sct | Lysosomal acid lipase deficiency (disorder) |
| 716721003 | http://snomed.info/sct | Genetic recurrent myoglobinuria (disorder) |
| 71702000 | http://snomed.info/sct | Maple syrup urine disease, multiple dehydrogenase form (disorder) |
| 717041008 | http://snomed.info/sct | Syndromic recessive X-linked ichthyosis (disorder) |
| 717047007 | http://snomed.info/sct | Bile acid coenzyme A ligase deficiency and defective amidation (disorder) |
| 717276003 | http://snomed.info/sct | Folinic acid responsive seizure syndrome (disorder) |
| 717773005 | http://snomed.info/sct | Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) |
| 717774004 | http://snomed.info/sct | Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) |
| 717821004 | http://snomed.info/sct | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) |
| 718124006 | http://snomed.info/sct | Fatal infantile cytochrome C oxidase deficiency (disorder) |
| 718193005 | http://snomed.info/sct | Peripheral resistance to thyroid hormone (disorder) |
| 718210003 | http://snomed.info/sct | Deficiency of monoamine oxidase A (disorder) |
| 718219002 | http://snomed.info/sct | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) |
| 718712005 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 1m (disorder) |
| 718750004 | http://snomed.info/sct | Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) |
| 718751000 | http://snomed.info/sct | Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) |
| 719377004 | http://snomed.info/sct | Microcephalus with albinism and digital anomaly syndrome (disorder) |
| 719430008 | http://snomed.info/sct | Leber plus disease (disorder) |
| 719454003 | http://snomed.info/sct | Congenital bile acid synthesis defect type 3 (disorder) |
| 720513002 | http://snomed.info/sct | Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
| 720520009 | http://snomed.info/sct | Attenuated Chédiak-Higashi syndrome (disorder) |
| 720827002 | http://snomed.info/sct | Multiple mitochondrial dysfunctions syndrome (disorder) |
| 720830009 | http://snomed.info/sct | Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) |
| 720861000 | http://snomed.info/sct | Ehlers-Danlos syndrome progeroid type (disorder) |
| 720864008 | http://snomed.info/sct | Encephalopathy due to prosaposin deficiency (disorder) |
| 720941007 | http://snomed.info/sct | Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) |
| 720976009 | http://snomed.info/sct | Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) |
| 720977000 | http://snomed.info/sct | Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) |
| 720978005 | http://snomed.info/sct | Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) |
| 721085000 | http://snomed.info/sct | Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
| 721099001 | http://snomed.info/sct | Adult polyglucosan body disease (disorder) |
| 721100009 | http://snomed.info/sct | Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) |
| 722054007 | http://snomed.info/sct | Ocular albinism with late-onset sensorineural deafness (disorder) |
| 722057000 | http://snomed.info/sct | Oculocutaneous albinism type 5 (disorder) |
| 722058005 | http://snomed.info/sct | Oculocutaneous albinism type 6 (disorder) |
| 722059002 | http://snomed.info/sct | Oculocutaneous albinism type 7 (disorder) |
| 722207000 | http://snomed.info/sct | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
| 722212004 | http://snomed.info/sct | Severe X-linked mitochondrial encephalomyopathy (disorder) |
| 722285005 | http://snomed.info/sct | Albinism with deafness syndrome (disorder) |
| 722302009 | http://snomed.info/sct | Glycogen storage disease type II infantile onset (disorder) |
| 722343009 | http://snomed.info/sct | Glycogen storage disease type II late onset (disorder) |
| 72262000 | http://snomed.info/sct | Inborn error of glutathione metabolism (disorder) |
| 722762005 | http://snomed.info/sct | Ganglioside GM3 synthase deficiency (disorder) |
| 723307008 | http://snomed.info/sct | Ethylmalonic encephalopathy (disorder) |
| 723360007 | http://snomed.info/sct | Familial hypercholanemia (disorder) |
| 723552005 | http://snomed.info/sct | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 723557004 | http://snomed.info/sct | Thiamine-responsive encephalopathy (disorder) |
| 723579009 | http://snomed.info/sct | Tangier disease (disorder) |
| 723624008 | http://snomed.info/sct | Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) |
| 723675006 | http://snomed.info/sct | Sialidosis type 1 (disorder) |
| 724096007 | http://snomed.info/sct | Congenital disorder of glycosylation type 1f (disorder) |
| 724142005 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 2a (disorder) |
| 724344004 | http://snomed.info/sct | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) |
| 724351008 | http://snomed.info/sct | Hereditary hyperekplexia (disorder) |
| 724356003 | http://snomed.info/sct | Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) |
| 724769002 | http://snomed.info/sct | Ataxia co-occurrent and due to phytanic acid storage disease (disorder) |
| 72488000 | http://snomed.info/sct | Niemann-Pick disease, type C, chronic form (disorder) |
| 725026008 | http://snomed.info/sct | Hepatic glycogen synthase deficiency (disorder) |
| 725027004 | http://snomed.info/sct | Muscle and heart glycogen synthase deficiency (disorder) |
| 725028009 | http://snomed.info/sct | Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) |
| 725044000 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 1o (disorder) |
| 725046003 | http://snomed.info/sct | Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) |
| 725078006 | http://snomed.info/sct | Congenital disorder of glycosylation type 1e (disorder) |
| 725079003 | http://snomed.info/sct | Congenital disorder of glycosylation type 1j (disorder) |
| 72523005 | http://snomed.info/sct | X-linked ichthyosis with steryl-sulfatase deficiency (disorder) |
| 725286002 | http://snomed.info/sct | Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) |
| 725296006 | http://snomed.info/sct | Mucolipidosis type IV (disorder) |
| 725587007 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 2d (disorder) |
| 7259005 | http://snomed.info/sct | Mucopolysaccharidosis IV-A (disorder) |
| 725903003 | http://snomed.info/sct | Autosomal dominant myoglobinuria (disorder) |
| 726021008 | http://snomed.info/sct | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) |
| 726079008 | http://snomed.info/sct | Hereditary hypercarotenemia and vitamin A deficiency (disorder) |
| 7265005 | http://snomed.info/sct | Glycogen storage disease, type I (disorder) |
| 73068003 | http://snomed.info/sct | X-linked variant form of thyroxine-binding globulin (disorder) |
| 73123008 | http://snomed.info/sct | Mucopolysaccharidosis type I-S (disorder) |
| 73146005 | http://snomed.info/sct | Hunter's syndrome, severe form (disorder) |
| 732252005 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 2k (disorder) |
| 733083006 | http://snomed.info/sct | Congenital disorder of glycosylation type 1r (disorder) |
| 733084000 | http://snomed.info/sct | Congenital disorder of glycosylation type 1n (disorder) |
| 733085004 | http://snomed.info/sct | Congenital disorder of glycosylation type 1p (disorder) |
| 733086003 | http://snomed.info/sct | Pseudoprogeria syndrome (disorder) |
| 733111000 | http://snomed.info/sct | Congenital disorder of glycosylation type 1w (disorder) |
| 733112007 | http://snomed.info/sct | Congenital disorder of glycosylation type 1x (disorder) |
| 733115009 | http://snomed.info/sct | Congenital disorder of glycosylation type 1y (disorder) |
| 733450008 | http://snomed.info/sct | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) |
| 733451007 | http://snomed.info/sct | Congenital disorder of glycosylation type 1s (disorder) |
| 733452000 | http://snomed.info/sct | Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder) |
| 733599009 | http://snomed.info/sct | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder) |
| 733601006 | http://snomed.info/sct | Congenital disorder of glycosylation type 1q (disorder) |
| 733623005 | http://snomed.info/sct | Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
| 733630004 | http://snomed.info/sct | Deficiency of alpha-ketoglutarate dehydrogenase (disorder) |
| 733636005 | http://snomed.info/sct | 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) |
| 733637001 | http://snomed.info/sct | 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
| 734434007 | http://snomed.info/sct | Pyridoxine-dependent epilepsy (disorder) |
| 734990008 | http://snomed.info/sct | Primary hyperoxaluria type III (disorder) |
| 742876007 | http://snomed.info/sct | Peroxisome biogenesis disorder (disorder) |
| 74320008 | http://snomed.info/sct | Woolf's syndrome (disorder) |
| 75238000 | http://snomed.info/sct | Mucopolysaccharidosis III-C (disorder) |
| 75610003 | http://snomed.info/sct | Mucopolysaccharidosis type I (disorder) |
| 75652008 | http://snomed.info/sct | Familial renal iminoglycinuria (disorder) |
| 7573000 | http://snomed.info/sct | Classical phenylketonuria (disorder) |
| 763778003 | http://snomed.info/sct | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
| 765100000 | http://snomed.info/sct | Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) |
| 765146000 | http://snomed.info/sct | Oculocutaneous albinism type 1 (disorder) |
| 765326001 | http://snomed.info/sct | Familial glucocorticoid deficiency (disorder) |
| 765329008 | http://snomed.info/sct | Carbamoyl-phosphate synthetase 1 deficiency (disorder) |
| 765401006 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
| 765403009 | http://snomed.info/sct | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
| 766251006 | http://snomed.info/sct | Lethal infantile mitochondrial myopathy (disorder) |
| 768846004 | http://snomed.info/sct | N-glycanase 1 congenital disorder of deglycosylation (disorder) |
| 770567006 | http://snomed.info/sct | Progeroid syndrome Petty type (disorder) |
| 770755007 | http://snomed.info/sct | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
| 771442003 | http://snomed.info/sct | Ogden syndrome (disorder) |
| 771478008 | http://snomed.info/sct | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) |
| 771516000 | http://snomed.info/sct | Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) |
| 773329005 | http://snomed.info/sct | CK syndrome (disorder) |
| 773331001 | http://snomed.info/sct | Nestor Guillermo progeria syndrome (disorder) |
| 773406003 | http://snomed.info/sct | Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
| 773415005 | http://snomed.info/sct | Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
| 773418007 | http://snomed.info/sct | Xylosyltransferase 1 congenital disorder of glycosylation (disorder) |
| 773426004 | http://snomed.info/sct | Lamin A/C related cardiocutaneous progeria syndrome (disorder) |
| 773643006 | http://snomed.info/sct | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) |
| 773644000 | http://snomed.info/sct | Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) |
| 773648002 | http://snomed.info/sct | Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) |
| 773726000 | http://snomed.info/sct | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder) |
| 774148007 | http://snomed.info/sct | Polyglucosan body myopathy type 1 (disorder) |
| 774205007 | http://snomed.info/sct | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder) |
| 776417008 | http://snomed.info/sct | Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) |
| 777998000 | http://snomed.info/sct | Temtamy preaxial brachydactyly syndrome (disorder) |
| 778067002 | http://snomed.info/sct | Brachytelephalangic chondrodysplasia punctata (disorder) |
| 780820008 | http://snomed.info/sct | Isolated adenosine triphosphate synthase deficiency (disorder) |
| 7810004 | http://snomed.info/sct | Glycoprotein storage disorder (disorder) |
| 782696001 | http://snomed.info/sct | Recessive mitochondrial ataxia syndrome (disorder) |
| 782739000 | http://snomed.info/sct | Male emopamil-binding protein disorder with neurological defect (disorder) |
| 782744007 | http://snomed.info/sct | Lipoic acid synthetase deficiency (disorder) |
| 782745008 | http://snomed.info/sct | Lipoyl transferase 1 deficiency (disorder) |
| 782757004 | http://snomed.info/sct | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) |
| 782771007 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder) |
| 782772000 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) |
| 782886007 | http://snomed.info/sct | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) |
| 783057002 | http://snomed.info/sct | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) |
| 783064000 | http://snomed.info/sct | Progressive myoclonic epilepsy type 3 (disorder) |
| 783174004 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability (disorder) |
| 783175003 | http://snomed.info/sct | Congenital muscular dystrophy without intellectual disability (disorder) |
| 783176002 | http://snomed.info/sct | Congenital muscular dystrophy with cerebellar involvement (disorder) |
| 783558004 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 11 (disorder) |
| 783717008 | http://snomed.info/sct | Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) |
| 783734000 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) |
| 784346006 | http://snomed.info/sct | Navajo neurohepatopathy (disorder) |
| 784370005 | http://snomed.info/sct | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) |
| 785303004 | http://snomed.info/sct | Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
| 78586005 | http://snomed.info/sct | Gamma-glutamyl transpeptidase deficiency (disorder) |
| 78642008 | http://snomed.info/sct | Ocular albinism, type I (disorder) |
| 787412002 | http://snomed.info/sct | Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 78921008 | http://snomed.info/sct | Autosomal recessive ocular albinism (disorder) |
| 78960005 | http://snomed.info/sct | Pancreatic triacylglycerol lipase deficiency (disorder) |
| 789657008 | http://snomed.info/sct | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) |
| 79488001 | http://snomed.info/sct | Thyroxine plasma membrane transport defect (disorder) |
| 79935000 | http://snomed.info/sct | Farber's lipogranulomatosis (disorder) |
| 80908008 | http://snomed.info/sct | Ornithine carbamoyltransferase deficiency (disorder) |
| 80963002 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency class V variant anemia (disorder) |
| 81873006 | http://snomed.info/sct | Iodide peroxidase defect (disorder) |
| 81896006 | http://snomed.info/sct | Dysmorphic sialidosis with renal involvement (disorder) |
| 819953000 | http://snomed.info/sct | Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) |
| 82003006 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia (disorder) |
| 82319005 | http://snomed.info/sct | Acyl-coenzyme A dehydrogenase deficiency (disorder) |
| 82342003 | http://snomed.info/sct | Yellow mutant oculocutaneous albinism (disorder) |
| 82500001 | http://snomed.info/sct | Wolman's disease (disorder) |
| 84193000 | http://snomed.info/sct | Trehalase deficiency (disorder) |
| 85487008 | http://snomed.info/sct | Renal phosphaturia (disorder) |
| 860858001 | http://snomed.info/sct | Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder) |
| 860859009 | http://snomed.info/sct | Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder) |
| 860860004 | http://snomed.info/sct | Glycogen storage disease type IXB (disorder) |
| 86095007 | http://snomed.info/sct | Inborn error of metabolism (disorder) |
| 86444004 | http://snomed.info/sct | Niemann-Pick disease, type C, acute form (disorder) |
| 86859003 | http://snomed.info/sct | Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder) |
| 87074006 | http://snomed.info/sct | Salla disease (disorder) |
| 87694001 | http://snomed.info/sct | Pyruvate carboxylase deficiency (disorder) |
| 87827003 | http://snomed.info/sct | Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) |
| 879937000 | http://snomed.info/sct | Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) |
| 880065001 | http://snomed.info/sct | Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) |
| 880066000 | http://snomed.info/sct | Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) |
| 8808004 | http://snomed.info/sct | Biotinidase deficiency (disorder) |
| 88393000 | http://snomed.info/sct | Sanfilippo syndrome (disorder) |
| 88469006 | http://snomed.info/sct | Zellweger syndrome (disorder) |
| 8868001 | http://snomed.info/sct | Dyshormonogenetic goiter AND iodide leak (disorder) |
| 890435004 | http://snomed.info/sct | Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder) |
| 890436003 | http://snomed.info/sct | Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder) |
| 8933000 | http://snomed.info/sct | Crigler-Najjar syndrome, type I (disorder) |
| 89579000 | http://snomed.info/sct | Tetrahydrofolate methyltransferase deficiency (disorder) |
| 89597008 | http://snomed.info/sct | Glycogen storage disease, type VII (disorder) |
| 897592003 | http://snomed.info/sct | Congenital disorder of glycosylation type 1i (disorder) |
| 90500005 | http://snomed.info/sct | Carnitine palmitoyltransferase deficiency (disorder) |
| 9311003 | http://snomed.info/sct | Hermansky-Pudlak syndrome (disorder) |
| 9537004 | http://snomed.info/sct | Juvenile GM2 gangliosidosis (disorder) |
Produced 08 Sep 2023