nephrolithiasis, X-Linked recessive, with renal failure

Preferred Label : nephrolithiasis, X-Linked recessive, with renal failure;

MeSH note : mutation in CLCN5;

MeSH synonym : urolithiasis, X-Linked recessive, type 1; nephrolithiasis 1; nephrolithiasis, X-Linked recessive, type 1;

Details

Origin ID

C562901;

UMLS CUI

C0403720;

Automatic exact mappings (from CISMeF team)
- X-linked nephrolithiasis type I [DO Concept]
Currated CISMeF NLP mapping
- Nephrolithiasis, X-linked recessive, with renal failure [OMIM Phenotype]
- X-linked recessive nephrolithiasis with renal failure (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- nephrolithiasis [MeSH Descriptor]
- renal insufficiency [MeSH Descriptor]
Record concept(s)
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrolithiasis, X-linked recessive, with renal failure [OMIM Phenotype]
- X-linked recessive nephrolithiasis with renal failure (disorder) [SNOMED CT concept]

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