OMOP Concept 4100475
Maple syrup urine disease
StandardConditionSNOMED27718001Disorder
Maps from
13
Descendants
7
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
13 source codes normalize to Maple syrup urine disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 134681 | Maple syrup urine disease | Non-standard |
| CIM10 | E71.0 | Maple-syrup-urine disease | Non-standard |
| ICD10 | E71.0 | Maple-syrup-urine disease | Non-standard |
| ICD10CM | E71.0 | Maple-syrup-urine disease | Non-standard |
| ICD10CN | E71.0 | Maple-syrup-urine disease | Non-standard |
| ICD10CN | E71.000 | Maple-syrup-urine disease | Non-standard |
| ICD10GM | E71.0 | Maple-syrup-urine disease | Non-standard |
| KCD7 | E71.0 | Maple-syrup-urine disease | Non-standard |
| MeSH | D008375 | Maple Syrup Urine Disease | Non-standard |
| Nebraska Lexicon | 27718001 | Branched-chain alpha-keto acid dehydrogenase deficiency | Non-standard |
| OXMIS | 2704B | KETOACIDURIA BRANCHED-CHAIN | Non-standard |
| OXMIS | 2704M | MAPLE SYRUP (URINE) DISEASE | Non-standard |
| Read | C303300 | Maple syrup urine disease | Non-standard |
Synonyms
Alternative names recorded for Maple syrup urine disease across source vocabularies.
- BCKD - branched-chain 2-ketoacid dehydrogenase deficiency
- Branched-chain alpha-keto acid dehydrogenase deficiency
- Branched chain ketoacid dehydrogenase deficiency
- Branched chain ketoaciduria
- deficiencia de alfa cetoácido de cadena ramificada deshidrogenasa
- deficiencia de cetoácido descarboxilasa
- enfermedad de la orina en jarabe de arce
- enfermedad de la orina en jarabe de arce (trastorno)
- Ketoacidaemia
- Ketoacid decarboxylase deficiency
- Ketoacidemia
- Maple syrup urine disease (disorder)
- MSUD - maple syrup urine disease
- MSUD (maple syrup urine disease) - enfermedad de la orina en jarabe de arce
- Oxo-acid decarboxylase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(16)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of branched-chain amino acid metabolism
- 1Enzymopathy
- 1Inborn error of metabolism
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Disorder of amino acid and organic acid metabolism
- 2Hereditary metabolic disease
- 2Metabolic disease
- 3Disease
- 3Disorder of amino acid metabolism
- 3Disorder of fetus and/or newborn
- 3Hereditary disease
- 4Clinical finding
- 4Disorder of organic acid metabolism
- 4Genetic disease
Narrower concepts
(7)Included automatically when you query with descendants.
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