Maple syrup urine disease

Preferred Label : Maple syrup urine disease;

LOINC status : ACTIVE;

Synonyme UMLS : Branched-chain alpha-keto acid dehydrogenase deficiency; Branched chain ketoacid dehydrogenase deficiency; BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency; Maple syrup urine disease, NOS; Oxo-acid decarboxylase deficiency; MSUD - Maple syrup urine disease; Branched chain ketoaciduria; Ketoacidemia; BCKD deficiency; Ketoacid decarboxylase deficiency; MSUD; maple syrup disease; Leucinosis;

UMLS MTHU# : MTHU021578;

Details

Origin ID

LP56746-8;

UMLS CUI

C0024776;

Automatic exact mappings (from CISMeF team)
- Maple syrup urine disease [OMIM phenotypic series]
- acetonemia [MeSH concept]
- 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]
- genetic brain disorders [MedlinePlus Topic]
- ketosis [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Hyperleucinemia (disorder) [SNOMED CT concept]
- Leucinosis [ICD-11 More detail]
- Leucinosis [PASCAL descriptor]
- Leucinosis (disorder) [Inactive SNOMED CT concept]
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ACR pathology]
- 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 [ICD-11 Sub-sub category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- hyperleucinemia [SNOMED Notion]
- 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.)]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
LOINC code(s)
- Maple syrup urine disease multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen [LOINC code]
- Maple syrup urine disease newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar: [LOINC code]
- Maple syrup urine disease therapy monitoring panel:-:Pt:Ser/Plas:Qn: [LOINC code]
- Maple syrup urine disease:Imp:Pt:Bld.dot:Nom: [LOINC code]
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 [MedDRA LLT]
- 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]
- 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]

Keyword's position in hierarchy(ies) :

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