Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Preferred Label : Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis;

ICD-11 definition : Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).;

ICD-11 synonym : Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome;

Details

Origin ID

1781576728;

UMLS CUI

C1838327;

Currated CISMeF NLP mapping
- 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 [NCIt 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 [ORDO Disease]
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) [SNOMED CT concept]
- Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis [NCIt 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]

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