Aase-smith syndrome I

Preferred Label : Aase-smith syndrome I;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Aase-smith syndrome; Joint contractures with other abnormalities;

Inheritance : Autosomal dominant;

Neoplasia : Congenital neuroblastoma;

Prefixed ID : %147800;

Details

Origin ID

147800;

UMLS CUI

C0220686;

Currated CISMeF NLP mapping
- Aase Smith syndrome [MeSH concept]
- Aase Smith syndrome [MeSH Supplementary Concept]
- Aase-Smith syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Congenital neuroblastoma [HPO term]
- Dandy-Walker malformation [HPO term]
- Death in infancy [HPO term]
- Flexion contracture [HPO term]
- Hydrocephalus [HPO term]
- Open mouth [HPO term]
- Ptosis [HPO term]
- Slender finger [HPO term]
- Stillborn or death in infancy [HPO term]
- Talipes equinovarus [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Aase-Smith syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aase Smith syndrome [MeSH Supplementary Concept]
- Aase Smith syndrome [MeSH concept]
- Aase-Smith syndrome [ORDO Disease]
- Hydrocephalus with cleft palate and joint contracture syndrome (disorder) [SNOMED CT concept]

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