histidinemia - CISMeF

Preferred Label : histidinemia;

MeSH synonym : histidine ammonia-lyase deficiency; deficiency in histidase; histidase deficiency; HAL deficiency; hyperhistidinemia;

Details

Origin ID

C538320;

UMLS CUI

C0220992;

CISMeF manual mappings
- Histidinemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinaemia [ICD-11 Sub-sub category]
- Histidinemia [PASCAL descriptor]
- Histidinemia [OMIM Phenotype]
- Histidinemia [ORDO Disease]
- Hyperhistidinemia [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
- histidinemia [DO Concept]
- histidinemia [Disease (Nov.)]
DO Cross reference
- histidinemia [DO Concept]
HPO term
- Hyperhistidinemia [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- histidine ammonia-lyase [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Histidinemia [ORDO Disease]
Record concept(s)
- Histidinemia [MeSH concept]
See also (suggested by CISMeF)
- histidine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of histidine ammonia-lyase (disorder) [SNOMED CT concept]
- Histidinaemia [ICD-11 Sub-sub category]
- Histidinemia [ORDO Disease]
- Histidinemia [OMIM Phenotype]
- Histidinemia [PASCAL descriptor]
- Histidinemia (disorder) [SNOMED CT concept]
- Hyperhistidinemia [HPO term]
- histidine ammonia-lyase deficiency [SNOMED Notion]
- histidinemia [DO Concept]
- histidinemia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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