Cystinosis, late-onset juvenile or adolescent nephropathic type

Preferred Label : Cystinosis, late-onset juvenile or adolescent nephropathic type;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystinosis, intermediate;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cystinosis gene (CTNS, 219800.0008);

Laboratory abnormalities : Proteinuria; Elevated white blood cell cystine;

Prefixed ID : #219900;

Details

Origin ID

219900;

UMLS CUI

C0268626;

Automatic exact mappings (from CISMeF team)
- Cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH Supplementary Concept]
DO Cross reference
- cystinosis [DO Concept]
Genes related to phenotype
- Cystinosin [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal crystals [HPO term]
- Elevated intracellular cystine [HPO term]
- Growth abnormality [HPO term]
- Juvenile onset [HPO term]
- Proteinuria [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Retinopathy [HPO term]
- Rickets [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile nephropathic cystinosis [ORDO Disease]
- Juvenile nephropathic cystinosis [ICD-11 More detail]
- Juvenile nephropathic cystinosis (disorder) [SNOMED CT concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH Supplementary Concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH concept]
- juvenile nephropathic cystinosis [SNOMED Notion]

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