OMOP Concept 444377
Inborn error of metabolism
StandardConditionSNOMED86095007Disorder
Maps from
4
Descendants
706
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
4 source codes normalize to Inborn error of metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 117246 | Inborn error of metabolism | Non-standard |
| MeSH | D008661 | Metabolism, Inborn Errors | Non-standard |
| Nebraska Lexicon | 275438000 | Unclassified metabolic disorder | Non-standard |
| Nebraska Lexicon | 86095007 | Inborn error of metabolism | Non-standard |
Synonyms
Alternative names recorded for Inborn error of metabolism across source vocabularies.
- IBEM - Inborn error of metabolism
- IEM - Inborn error of metabolism
- Inborn error of metabolism (disorder)
- metabolopatía congénita
- metabolopatía congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(8)Roll up to these when you need a wider cohort.
Narrower concepts
(706)Included automatically when you query with descendants.
- 117 alpha-Hydroxyprogesterone aldolase deficiency
- 13 beta-Hydroxysteroid dehydrogenase deficiency
- 13-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 15-Oxoprolinase deficiency
- 1Acetyl-CoA carboxylase deficiency
- 1Albinism
- 1Amino acid/carbohydrate metabolic disorder
- 1Aminomethyltransferase deficiency
- 1Argininosuccinate lyase deficiency
- 1Arthrochalasia Ehlers-Danlos syndrome
- 1Autosomal recessive extra-oral halitosis
- 1Brachytelephalangic chondrodysplasia punctata
- 1CHILD syndrome
- 1Cholesterol monooxygenase (side-chain cleaving) deficiency
- 1CK syndrome
- 1Congenital muscular dystrophy without intellectual disability
- 1Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism
- 1Corticosterone 18-monooxygenase deficiency
- 1Cystathionine beta-synthase deficiency
- 1Defect in post-translational modification of lysosomal enzymes
- 1Deficiency of galactose mutarotase
- 1Deficiency of histidine ammonia-lyase
- 1Deficiency of hydroxymethylglutaryl-CoA lyase
- 1Deficiency of methylmalonyl-CoA mutase
- 1Deficiency of Xaa-Pro dipeptidase
- 1Digenic hemochromatosis
- 1Dihydropteridine reductase deficiency
- 1Disorder of creatine synthesis
- 1Disorder of fatty acid metabolism
- 1Disorder of glycoprotein metabolism
- 1Disorder of glycosaminoglycan metabolism
- 1Disorder of peroxisomal function
- 1Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 1Dyshormonogenic goiter
- 1Erythropoietic protoporphyria
- 1Essential pentosuria
- 1Ethanolaminosis
- 1Familial renal iminoglycinuria
- 1Fructose-biphosphatase deficiency
- 1Gamma-glutamyl transpeptidase deficiency
- 1Glucose-6-phosphate dehydrogenase deficiency anemia
- 1Glucose-galactose malabsorption
- 1Glutamate-cysteine ligase deficiency
- 1Glycine dehydrogenase (decarboxylating) deficiency
- 1Heme oxygenase-1 deficiency
- 1Hepatic methionine adenosyltransferase deficiency
- 1Hereditary butyrylcholinesterase deficiency
- 1Hereditary combined deficiency of vitamin K-dependent clotting factors
- 1Hereditary hypercarotenemia and vitamin A deficiency
- 1HNSHA due to hexokinase deficiency
Get this concept via the API
Resolve Inborn error of metabolism - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/444377?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card