Cubitus valgus with impaired intellectual development and unusual facies

Preferred Label : Cubitus valgus with impaired intellectual development and unusual facies;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : X-linked recessive;

Prefixed ID : %300471;

Details

Origin ID

300471;

UMLS CUI

C5677056;

Currated CISMeF NLP mapping
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) [SNOMED CT concept]
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome [ORDO Disease]
- cubitus valgus with mental retardation and unusual facies [MeSH concept]
- cubitus valgus with mental retardation and unusual facies [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Cubitus valgus [HPO term]
- Deeply set eye [HPO term]
- Downslanted palpebral fissures [HPO term]
- Intellectual disability, moderate [HPO term]
- Melanocytic nevus [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Truncal obesity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome [ORDO Disease]
- cubitus valgus with mental retardation and unusual facies [MeSH Supplementary Concept]
- cubitus valgus with mental retardation and unusual facies [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients