Acrocephalopolysyndactyly type III

Preferred Label : Acrocephalopolysyndactyly type III;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Acps with leg hypoplasia; Acps III; Sakati-nyhan syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 101120;

Détails

Origin ID

101120;

UMLS CUI

C1275079;

Currated CISMeF NLP mapping
- Acrocephalopolysyndactyly type III (disorder) [SNOMED CT concept]
- Sakati syndrome [MeSH concept]
- Sakati-Nyhan syndrome [DO Concept]
- Sakati-Nyhan syndrome [ORDO Disease]
- sakati syndrome [MeSH Supplementary Concept]
DO Cross reference
- Sakati-Nyhan syndrome [DO Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Broad thumbs and broad great toes [HPO term]
- Craniosynostosis [HPO term]
- Dental crowding [HPO term]
- Dysplastic ears [HPO term]
- Flat face [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Low-set ears [HPO term]
- Lower limb undergrowth [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Oxycephaly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Shallow orbits [HPO term]
- Short neck [HPO term]
- Small face [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Sakati-Nyhan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolysyndactyly type III (disorder) [SNOMED CT concept]
- Sakati syndrome [MeSH concept]
- Sakati-Nyhan syndrome [ORDO Disease]
- Sakati-Nyhan syndrome [DO Concept]
- sakati syndrome [MeSH Supplementary Concept]

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

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