Maple syrup urine disease - CISMeF

" /> Maple syrup urine disease - CISMeF

CISMeF

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Maple syrup urine diseaseOMIM phenotypic series

Preferred Label : Maple syrup urine disease;

Details

Origin ID

PS248600;

Automatic exact mappings (from CISMeF team)
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- genetic brain disorders [MedlinePlus Topic]
- leucinosis [Artificial nutrition thesaurus concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]

Keyword's position in hierarchy(ies) :

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24/05/2025

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