Polycystic kidney disease, infantile severe, with tuberous sclerosis

Preferred Label : Polycystic kidney disease, infantile severe, with tuberous sclerosis;

Symbol : PKDTS;

CISMeF acronym : PKDTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome; Chromosome 16p13.3 deletion syndrome, distal;

Inheritance : Autosomal dominant contiguous deletion of TSC2 and PKD1;

Prefixed ID : #600273;

Details

Origin ID

600273;

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 [NCIt concept]
- Polycystic kidneys, severe infantile with tuberous sclerosis [MeSH concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cortical tubers [HPO term]
- Infantile polycystic kidneys [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Renal angiomyolipoma [HPO term]
ORDO concept(s)
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis [ORDO Disease]
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 [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 [NCIt concept]
- Polycystic kidneys, severe infantile with tuberous sclerosis [MeSH concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]

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