histidinuria - CISMeF

Preferred Label : histidinuria;

Query (CISMeF) : histidinurie.ti ou (histidine/urine.mc ou (histidine.mc et aminoaciduries rénales.mc) ou histidinurie rénale.sc);

PubMed query (by CISMeF) : %22histidinuria%22[TIAB] OR (%22histidine/urine%22[MH] OR (%22histidine%22[MH] AND %22renal aminoacidurias%22[MH]) OR %22histidinuria renal tubular defect%22[NM])

Origin ID

SR99999050;

UMLS CUI

C0268642;

Automatic exact mappings (from CISMeF team)
- Histidinaemia [ICD-11 Sub-sub category]
- Histidine transport defect (disorder) [SNOMED CT concept]
- Histidinemia [ORDO Disease]
- histidinemia [DO Concept]
CISMeF manual mappings
- Histidinuria [HPO term]
Currated CISMeF NLP mapping
- Histidinuria due to a renal tubular defect [OMIM Phenotype]
- Histidinuria renal tubular defect [MeSH concept]
- Histidinuria-renal tubular defect syndrome [ORDO Disease]
- histidinuria renal tubular defect [MeSH Supplementary Concept]
See also inter- (CISMeF)
- histidine [MeSH Descriptor]
- histidinuria renal tubular defect [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Histidine transport defect (disorder) [SNOMED CT concept]
- Histidinuria [HPO term]
- Histidinuria due to a renal tubular defect [OMIM Phenotype]
- Histidinuria renal tubular defect [MeSH concept]
- Histidinuria-renal tubular defect syndrome [ORDO Disease]
- histidine transport defect [SNOMED Notion]
- histidinuria renal tubular defect [MeSH Supplementary Concept]