Edinburgh malformation syndrome

Preferred Label : Edinburgh malformation syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #129850;

Details

Origin ID

129850;

UMLS CUI

C0795933;

Currated CISMeF NLP mapping
- Edinburgh malformation syndrome [ORDO Disease]
- Edinburgh malformation syndrome (disorder) [SNOMED CT concept]
- edinburgh malformation syndrome [MeSH concept]
- edinburgh malformation syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Death in infancy [HPO term]
- Failure to thrive [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Motor delay [HPO term]
- Neonatal hyperbilirubinemia [HPO term]
- True or apparent hydrocephalus [HPO term]
ORDO concept(s)
- Edinburgh malformation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Edinburgh malformation syndrome [ORDO Disease]
- Edinburgh malformation syndrome (disorder) [SNOMED CT concept]
- edinburgh malformation syndrome [MeSH Supplementary Concept]
- edinburgh malformation syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients