Polycystic kidney, cataract, and congenital blindness

Preferred Label : Polycystic kidney, cataract, and congenital blindness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 263100;

Détails

Origin ID

263100;

UMLS CUI

C1849771;

Currated CISMeF NLP mapping
- polycystic kidney, cataract, and congenital blindness [MeSH concept]
- polycystic kidney, cataract, and congenital blindness [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Congenital blindness [HPO term]
- Hypoplasia of the retina [HPO term]
- Microcoria [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Retinal dystrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- polycystic kidney, cataract, and congenital blindness [MeSH Supplementary Concept]
- polycystic kidney, cataract, and congenital blindness [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients