PKD2 gene - CISMeF

Preferred Label : PKD2 gene;

LOINC status : ACTIVE;

CISMeF acronym : PKD2;

Origin ID

LP36725-7;

UMLS CUI

C1418600;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant polycystic kidney disease, Type 2 [ICD-11 More detail]
- Polycystic kidney disease 2 with or without polycystic liver disease [OMIM Phenotype]
- Polycystin 2 [OMIM gene]
LOINC code(s)
- PKD1 gene & PKD2 gene deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA [LOINC code]
- PKD1 gene+PKD2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen [LOINC code]
- PKD1 gene+PKD2 gene targeted mutation analysis:Prid:Pt:Bld/Tiss:Nom:Molgen [LOINC code]
- PKD2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen [LOINC code]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Polycystin 2 [OMIM gene]
- polycystin 2, transient receptor potential cation channel [HGNC gene]