renal cysts and diabetes syndrome

Preferred Label : renal cysts and diabetes syndrome;

CISMeF synonym : Renal cysts - maturity-onset diabetes of the young type 5 syndrome; Renal dysfunction - early-onset diabetes mody 5 syndrome;

CISMeF acronym : MODY5;

MeSH synonym : maturity-onset diabetes of the young, type 5; hyperuricemic nephropathy, familial juvenile, atypical; glomerulocystic kidney disease, hypoplastic type; glomerulocystic kidney, familial hypoplastic;

Details

Origin ID

C535520;

UMLS CUI

C0431693;

Automatic exact mappings (from CISMeF team)
- Familial hypoplastic, glomerulocystic kidney (disorder) [SNOMED CT concept]
- HNF1 homeobox B [ORDO Gene]
- HNF1B wt Allele [NCIt concept]
- MODY 5 syndrome [ICD-11 More detail]
- Renal Cysts and Diabetes Syndrome [NCIt concept]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal cysts and diabetes syndrome [OMIM Phenotype]
- maturity onset diabetes of the young type 5 [Disease (Nov.)]
- maturity-onset diabetes of the young type 5 [DO Concept]
Has phenotype(s) (HPO)
- Abnormal liver function tests [HPO term]
- Chronic renal failure [HPO term]
- Kidney malformation [HPO term]
- Variable age at onset [HPO term]
MeSH term(s) associated for indexing
- central nervous system diseases [MeSH Descriptor]
- dental enamel [MeSH Descriptor]
- diabetes mellitus, type 2 [MeSH Descriptor]
- kidney diseases, cystic [MeSH Descriptor]
ORDO relation(s)
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Record concept(s)
- Renal cysts and diabetes syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypoplastic, glomerulocystic kidney (disorder) [SNOMED CT concept]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal Cysts and Diabetes Syndrome [NCIt concept]
- Renal cysts and diabetes syndrome [OMIM Phenotype]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
- maturity onset diabetes of the young type 5 [Disease (Nov.)]
- maturity-onset diabetes of the young type 5 [DO Concept]

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