Maple Syrup Urine Disease

Preferred Label : Maple Syrup Urine Disease;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.;

Details

Origin ID

C34806;

UMLS CUI

C0024776;

Automatic exact mappings (from CISMeF team)
- Maple syrup urine disease [OMIM phenotypic series]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
Currated CISMeF NLP mapping
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [OMIM Phenotype]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- ketosis [MeSH Descriptor]
- leucinosis [Artificial nutrition thesaurus concept]
- 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]
- maple syrup urine disorder [Disease (Nov.)]
DO Cross reference
- maple syrup urine disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [OMIM Phenotype]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- genetic brain disorders [MedlinePlus Topic]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients