Cystinuria - CISMeF

Preferred Label : Cystinuria;

NCIt definition : An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.;

Details

Origin ID

C84664;

UMLS CUI

C0010691;

DO Cross reference
- cystinuria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinuria [OMIM Phenotype]
- Cystinuria [HPO term]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria (disorder) [SNOMED CT concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [DO Concept]
- cystinuria [MeSH concept]
- cystinuria [MeSH Descriptor]
- cystinuria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Cystinuria type A [ORDO Disease]
associated_with_malfunction_of_gene_product
- B(0,+)-Type Amino Acid Transporter 1 [NCIt concept]
- Neutral and Basic Amino Acid Transport Protein rBAT [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- SLC3A1 Gene [NCIt concept]
- SLC3A1 wt Allele [NCIt concept]
- SLC7A9 Gene [NCIt concept]
- SLC7A9 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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