Polysyndactyly with cardiac malformation

Preferred Label : Polysyndactyly with cardiac malformation;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Bonneau syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %263630;

Details

Origin ID

263630;

UMLS CUI

C1849719;

Currated CISMeF NLP mapping
- Polysyndactyly and cardiac malformation syndrome (disorder) [SNOMED CT concept]
- Polysyndactyly-cardiac malformation syndrome [ORDO Disease]
- bonneau syndrome [MeSH Supplementary Concept]
- bonneau syndrome [MeSH concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Complex cardiac malformations [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Hepatic cysts [HPO term]
- Hypertelorism [HPO term]
- Polyhydramnios [HPO term]
- Preaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
- Small nail [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Syndactyly [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Polysyndactyly-cardiac malformation syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polysyndactyly and cardiac malformation syndrome (disorder) [SNOMED CT concept]
- Polysyndactyly-cardiac malformation syndrome [ORDO Disease]
- bonneau syndrome [MeSH Supplementary Concept]
- bonneau syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients