Hirschsprung disease with type D brachydactyly

Preferred Label : Hirschsprung disease with type D brachydactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? X-linked;

Prefixed ID : 306980;

Details

Origin ID

306980;

UMLS CUI

C1844017;

CISMeF manual mappings
- Hirschsprung disease with type D brachydactyly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hirschsprung disease type d brachydactyly [MeSH concept]
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
- hirschsprung disease type d brachydactyly [MeSH Supplementary Concept]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Short thumb [HPO term]
- Type D brachydactyly [HPO term]
ORDO concept(s)
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hirschsprung disease type d brachydactyly [MeSH concept]
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
- hirschsprung disease type d brachydactyly [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients