Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

Preferred Label : Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis;

NCIt synonyms : Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis; TSC2-PKD1 Contiguous Gene Deletion Syndrome; PKDTS;

NCIt definition : An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis.;

Details

Origin ID

C177539;

UMLS CUI

C1838327;

Currated CISMeF NLP mapping
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis [ICD-11 More detail]
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis [ORDO Disease]
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) [SNOMED CT concept]
- Polycystic kidney disease, infantile severe, with tuberous sclerosis [OMIM Phenotype]
- Polycystic kidneys, severe infantile with tuberous sclerosis [MeSH concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis [ICD-11 More detail]
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) [SNOMED CT concept]
- Polycystic kidney disease, infantile severe, with tuberous sclerosis [OMIM Phenotype]
- Polycystic kidneys, severe infantile with tuberous sclerosis [MeSH concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients