Nephropathic Cystinosis

Preferred Label : Nephropathic Cystinosis;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.;

Details

Origin ID

C129932;

UMLS CUI

C2931187;

Automatic exact mappings (from CISMeF team)
- Nephropathic Cystinosis [MeSH concept]
- Nephropathic cystinosis [ICD-11 More detail]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
Currated CISMeF NLP mapping
- Cystinosis, nephropathic [OMIM Phenotype]
- Nephropathic cystinosis [MedDRA LLT]
- cystinosis [MeSH Descriptor]
DO Cross reference
- cystinosis [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinosis, nephropathic [OMIM Phenotype]
- Nephropathic cystinosis [MedDRA LLT]
- cystinosis [DO Concept]
- cystinosis [MeSH concept]
- cystinosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Infantile nephropathic cystinosis (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- CTNS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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