Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases

Preferred Label : Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Tel hashomer camptodactyly syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %211960;

Details

Origin ID

211960;

UMLS CUI

C1859356;

CISMeF manual mappings
- Tel Hashomer camptodactyly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Tel Hashomer camptodactyly syndrome [MeSH concept]
- Tel Hashomer camptodactyly syndrome [ORDO Disease]
- tel hashomer camptodactyly syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal dermatoglyphics [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Dermatoglyphic ridges abnormal [HPO term]
- EMG abnormality [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Joint contracture of the hand [HPO term]
- Long philtrum [HPO term]
- Mitral valve prolapse [HPO term]
- Skeletal dysplasia [HPO term]
- Small hypothenar eminence [HPO term]
- Small thenar eminence [HPO term]
- Spina bifida [HPO term]
- Talipes equinovarus [HPO term]
- Thenar and hypothenar hypoplasia [HPO term]
ORDO concept(s)
- Tel Hashomer camptodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tel Hashomer camptodactyly syndrome [ORDO Disease]
- Tel Hashomer camptodactyly syndrome [MeSH concept]
- Tel Hashomer camptodactyly syndrome (disorder) [SNOMED CT concept]
- tel hashomer camptodactyly syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients