Medullary cystic kidney disease 2

Preferred Label : Medullary cystic kidney disease 2;

Obsolete resource : true;

Moved to : 162000;

Symbol : MCKD2;

CISMeF acronym : ADMCKD2; MCKD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Medullary cystic kidney disease 2, autosomal dominant; ADMCKD2;

Description : Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (174000).;

Prefixed ID : 603860;

Details

Origin ID

603860;

UMLS CUI

C1859040;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- UMOD-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Uromodulin related autosomal dominant tubulointerstitial kidney disease (disorder) [SNOMED CT concept]
- medullary cystic kidney disease 2 (autosomal dominant) [HGNC gene]
Currated CISMeF NLP mapping
- Medullary Cystic Kidney Disease 2 [MeSH concept]
- Medullary cystic kidney disease type 2 (disorder) [Inactive SNOMED CT concept]
- medullary cystic kidney disease 2 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Enuresis [HPO term]
- Gout [HPO term]
- Hyperuricemia [HPO term]
- Multiple renal cysts [HPO term]
- Multiple small medullary renal cysts [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal tubular atrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tubulointerstitial nephritis [HPO term]
ORDO concept(s)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
See also inter- (CISMeF)
- juvenile gout [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Medullary Cystic Kidney Disease 2 [MeSH concept]
- Medullary cystic kidney disease type 2 (disorder) [Inactive SNOMED CT concept]
- Uromodulin related autosomal dominant tubulointerstitial kidney disease (disorder) [SNOMED CT concept]
- medullary cystic kidney disease 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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