Scaphocephaly, maxillary retrusion, and impaired intellectual development

Preferred Label : Scaphocephaly, maxillary retrusion, and impaired intellectual development;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scaphocephaly, maxillary retrusion, and mental retardation;

Prefixed ID : #609579;

Details

Origin ID

609579;

UMLS CUI

C1865070;

Currated CISMeF NLP mapping
- Familial scaphocephaly syndrome McGillivray type (disorder) [SNOMED CT concept]
- Familial scaphocephaly syndrome, McGillivray type [ICD-11 More detail]
- Familial scaphocephaly syndrome, McGillivray type [ORDO Disease]
- scaphocephaly, maxillary retrusion, and mental retardation [MeSH concept]
- scaphocephaly, maxillary retrusion, and mental retardation [MeSH Supplementary Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Dolichocephaly [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Familial scaphocephaly syndrome, McGillivray type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial scaphocephaly syndrome, McGillivray type [ORDO Disease]
- scaphocephaly, maxillary retrusion, and mental retardation [MeSH Supplementary Concept]
- scaphocephaly, maxillary retrusion, and mental retardation [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients