Mesomelic dysplasia, savarirayan type

Preferred Label : Mesomelic dysplasia, savarirayan type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mesomelic dysplasia with absent fibulas and triangular tibias;

Inheritance : Autosomal dominant;

Prefixed ID : 605274;

Détails

Origin ID

605274;

UMLS CUI

C1854470;

Currated CISMeF NLP mapping
- Mesomelic dysplasia Savarirayan type (disorder) [SNOMED CT concept]
- Mesomelic dysplasia, Savarirayan type [ICD-11 More detail]
- Mesomelic dysplasia, Savarirayan type [ORDO Disease]
- mesomelic dysplasia, savarirayan type [MeSH concept]
- mesomelic dysplasia, savarirayan type [MeSH Supplementary Concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dislocated radial head [HPO term]
- Fibular aplasia [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Mesomelia [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Talipes equinovalgus [HPO term]
Not associated HPO term(s)
- Abnormality of the hand [HPO term]
ORDO concept(s)
- Mesomelic dysplasia, Savarirayan type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mesomelic dysplasia Savarirayan type (disorder) [SNOMED CT concept]
- Mesomelic dysplasia, Savarirayan type [ORDO Disease]
- mesomelic dysplasia, savarirayan type [MeSH Supplementary Concept]
- mesomelic dysplasia, savarirayan type [MeSH concept]

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