Prune belly syndrome with pulmonic stenosis, impaired intellectual development, and deafness

Preferred Label : Prune belly syndrome with pulmonic stenosis, impaired intellectual development, and deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Prune belly syndrome with pulmonic stenosis, mental retardation, and deafness;

Inheritance : Autosomal recessive vs. X-linked;

Prefixed ID : 264140;

Details

Origin ID

264140;

UMLS CUI

C0403551;

Automatic exact mappings (from CISMeF team)
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) [SNOMED CT concept]
- prune belly syndrome with pulmonic stenosis, mental retardation, and deafness [MeSH Supplementary Concept]
- prune belly syndrome with pulmonic stenosis, mental retardation, and deafness [MeSH concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Intellectual disability [HPO term]
- Prune belly [HPO term]
- Pulmonic stenosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) [SNOMED CT concept]
- prune belly syndrome with pulmonic stenosis, mental retardation, and deafness [MeSH Supplementary Concept]
- prune belly syndrome with pulmonic stenosis, mental retardation, and deafness [MeSH concept]

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