Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect

Preferred Label : Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 235750;

Détails

Origin ID

235750;

UMLS CUI

C1856111;

Currated CISMeF NLP mapping
- hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect [MeSH Supplementary Concept]
- hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect [MeSH concept]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Polysyndactyly of hallux [HPO term]
- Preaxial foot polydactyly [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect [MeSH Supplementary Concept]
- hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect [MeSH concept]

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

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