Histidinaemia - CISMeF

ICD-11 code : 5C50.20;

Preferred Label : Histidinaemia;

ICD-11 definition : Histidinemia is a disorder of histidine metabolism caused by a defect in histidase, and seems to be benign in most affected individuals.;

ICD-11 synonym : Histidase deficiency; Histidinuria; Histidine ammonia-lyase deficiency;

Details

Origin ID

261052955;

UMLS CUI

C0220992;

Automatic exact mappings (from CISMeF team)
- histidinuria [CISMeF Querying Strategy]
Currated CISMeF NLP mapping
- Histidinemia [OMIM Phenotype]
- Histidinemia [ORDO Disease]
- Histidinemia [MeSH concept]
- Histidinemia [PASCAL descriptor]
- Histidinemia (disorder) [SNOMED CT concept]
- Hyperhistidinemia [HPO term]
- histidinemia [MeSH Supplementary Concept]
- histidinemia [DO Concept]
ICD-10 Mapping
- Other disorders of aromatic amino-acid metabolism [ICD-10 Sub-category]
See also inter- (CISMeF)
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinuria [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinemia [OMIM Phenotype]
- Histidinemia [MeSH concept]
- Histidinemia [ORDO Disease]
- Histidinemia [PASCAL descriptor]
- Histidinemia (disorder) [SNOMED CT concept]
- Hyperhistidinemia [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
- histidinemia [DO Concept]
- histidinemia [MeSH Supplementary Concept]
- histidinemia [Disease (Nov.)]
Validated automatic mappings to NTBT
- Disorder of aromatic amino acid metabolism (disorder) [SNOMED CT concept]
- Histidine transport defect (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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