leucinosis - CISMeF

Preferred Label : leucinosis;

Synonyme : BCKD deficiency; maple syrup urine disease; keto acid decarboxylase deficiency; branched-chain alpha-keto acid dehydrogenase deficiency; branched-chain ketoaciduria;

Acronym : MSUD;

Details

Origin ID

FZKJ8SRS-3;

Automatic exact mappings (from CISMeF team)
- Maple syrup urine disease [OMIM phenotypic series]
- 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]
Currated CISMeF NLP mapping
- Hyperleucinemia (disorder) [SNOMED CT concept]
- Leucinosis [ICD-11 More detail]
- Leucinosis [PASCAL descriptor]
- 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]
- Maple syrup urine disease, type ia [OMIM Phenotype]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- hyperleucinemia [SNOMED Notion]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]
- maple syrup urine disease, nos [SNOMED Notion]

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