Juvenile nephropathic cystinosis

Preferred Label : Juvenile nephropathic cystinosis;

ICD-11 definition : This refers to a juvenile nephropatic lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.;

Details

Origin ID

422905632;

UMLS CUI

C0268626;

Currated CISMeF NLP mapping
- Juvenile nephropathic cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis (disorder) [SNOMED CT concept]
- juvenile nephropathic cystinosis [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinosis, late-onset juvenile or adolescent nephropathic type [OMIM Phenotype]
- Juvenile nephropathic cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis (disorder) [SNOMED CT concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH Supplementary Concept]
- juvenile nephropathic cystinosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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