cystathioninuria

Preferred Label : cystathioninuria;

Query (CISMeF) : cystathioninurie.ti ou (cystathionine/urine.mc ou (Cystathionine.mc et aminoaciduries rénales.mc) ou déficit en gamma-cystathionase.sc ou cystathionine gamma-lyase/déficit.mc);

PubMed query (by CISMeF) : %22cystathioninuria%22[TIAB] OR (%22cystathionine/urine%22[MH] OR (%22cystathionine%22[MH] AND %22renal aminoacidurias%22[MH]) OR %22gamma-cystathionase deficiency%22[NM] OR %22cystathionine gamma-lyase/deficiency%22[MH])

Origin ID

SR99999040;

CISMeF manual mappings
- Cystathioninuria [HPO term]
Currated CISMeF NLP mapping
- Cystathione gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Cystathioninuria [PASCAL descriptor]
- Cystathioninuria [ICD-11 More detail]
- Cystathioninuria [NCIt concept]
- Cystathioninuria [OMIM Phenotype]
- Cystathioninuria [ORDO Disease]
- Cystathioninuria (disorder) [SNOMED CT concept]
- Gamma-cystathionase deficiency [MeSH concept]
- cystathioninuria [DO Concept]
- cystathioninuria [Disease (Nov.)]
- cystathioninuria, nos [SNOMED Notion]
See also inter- (CISMeF)
- cystathionine [MeSH Descriptor]
- gamma-cystathionase deficiency [MeSH Supplementary Concept]