Cystathioninuria

Preferred Label : Cystathioninuria;

NCIt definition : An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.;

Details

Origin ID

C129070;

UMLS CUI

C0220993;

Currated CISMeF NLP mapping
- Cystathione gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Cystathioninuria [ORDO Disease]
- Cystathioninuria [PASCAL descriptor]
- Cystathioninuria [OMIM Phenotype]
- Cystathioninuria [ICD-11 More detail]
- Cystathioninuria [HPO term]
- Cystathioninuria (disorder) [SNOMED CT concept]
- Gamma-cystathionase deficiency [MeSH concept]
- cystathioninuria [CISMeF Querying Strategy]
- cystathioninuria [DO Concept]
- cystathioninuria [Disease (Nov.)]
- cystathioninuria, nos [SNOMED Notion]
DO Cross reference
- cystathioninuria [DO Concept]
See also inter- (CISMeF)
- gamma-cystathionase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystathioninuria [OMIM Phenotype]
- Cystathioninuria [HPO term]
- Cystathioninuria (disorder) [SNOMED CT concept]
- cystathioninuria, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CTH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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