Cystinosis - CISMeF

Preferred Label : Cystinosis;

NCIt definition : An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction.;

Details

Origin ID

C2976;

UMLS CUI

C4316899;

Currated CISMeF NLP mapping
- Cystinosis [PASCAL descriptor]
- Cystinosis [ICD-11 Subcategory]
- Cystinosis [MedDRA Preferred Term]
- Cystinosis [ORDO Disease]
- Cystinosis (disorder) [SNOMED CT concept]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Disorders of amino-acid transport [ICD-10 Sub-category]
- cystinosis [DO Concept]
- cystinosis [Disease (Nov.)]
- cystinosis [MeSH Descriptor]
- cystinosis [MeSH concept]
- cystinosis, nos [SNOMED Notion]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
See also inter- (CISMeF)
- Cystinuria [ICD-11 Subcategory]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinosis [ICD-11 Subcategory]
- Cystinosis [MedDRA Preferred Term]
- Cystinosis (disorder) [SNOMED CT concept]
- cystinosis [MeSH Descriptor]
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]

Keyword's position in hierarchy(ies) :

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