Urocanic aciduria

ICD-11 code : 5C50.21;

Preferred Label : Urocanic aciduria;

ICD-11 definition : This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.;

ICD-11 synonym : Encephalopathy due to urocanase deficiency; Urocanate hydratase deficiency; Urocanase deficiency;

Details

Origin ID

61773927;

UMLS CUI

C0268514;

Currated CISMeF NLP mapping
- Urocanase deficiency [OMIM Phenotype]
- Urocanase deficiency [MeSH concept]
- Urocanate hydratase deficiency (disorder) [SNOMED CT concept]
- Urocanic aciduria [HPO term]
- Urocanic aciduria [ORDO Disease]
- urocanase deficiency [MeSH Supplementary Concept]
- urocanate hydratase deficiency [SNOMED Notion]
ICD-10 Mapping
- Other disorders of aromatic amino-acid metabolism [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Urocanase deficiency [OMIM Phenotype]
- Urocanase deficiency [MeSH concept]
- Urocanate hydratase deficiency (disorder) [SNOMED CT concept]
- Urocanic aciduria [HPO term]
- Urocanic aciduria [ORDO Disease]
- urocanase deficiency [MeSH Supplementary Concept]
- urocanase deficiency [DO Concept]
- urocanate hydratase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorder of aromatic amino acid metabolism (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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