Maple-syrup-urine disease

ICD-11 code : 5C50.D0;

Preferred Label : Maple-syrup-urine disease;

ICD-11 definition : Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterized by deepening coma with maple syrup odor of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterized by improvement of the biochemical profile with thiamine therapy.;

ICD-11 synonym : ketoacidaemia; maple-syrup-urine disorder; branched-chain alpha-keto acid dehydrogenase deficiency; branched-chain alpha-ketoacid dehydrogenase deficiency; MSUD - [Maple-syrup-urine disease]; Branched chain ketoaciduria; Ketoacid decarboxylase deficiency; BCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency]; branched chain ketoacid dehydrogenase deficiency; Ketoaminoacidaemia; maple-syrup-urine syndrome; Oxoacid decarboxylase deficiency;

ICD-11 acronym : MSUD; BCKD;

Details

Origin ID

1623706568;

UMLS CUI

C0024776;

Currated CISMeF NLP mapping
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [MedDRA LLT]
- 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-10 Sub-category (who)]
- 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.)]
ICD-10 Mapping
- Maple-syrup-urine disease [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ORDO Disease]
- 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 [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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