Chondrodysplasia punctata, autosomal dominant

Preferred Label : Chondrodysplasia punctata, autosomal dominant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Included titles and symbols : Chondrodysplasia punctata due to vitamin k deficiency; Chondrodysplasia punctata due to warfarin teratogenicity;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 (302960).;

Inheritance : Autosomal dominant;

Prefixed ID : 118650;

Détails

Origin ID

118650;

UMLS CUI

C1442935;

Automatic exact mappings (from CISMeF team)
- chondrodysplasia punctata [MeSH Descriptor]
- chondrodysplasia punctata due to vitamin K deficiency [MeSH concept]
- chondrodysplasia punctata due to warfarin teratogenicity [MeSH concept]
Currated CISMeF NLP mapping
- Chondrodysplasia punctata, Sheffield type [ICD-11 More detail]
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
- autosomal dominant chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata, autosomal dominant [MeSH Supplementary Concept]
- chondrodysplasia punctata, autosomal dominant [MeSH concept]
DO Cross reference
- autosomal dominant chondrodysplasia punctata [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Coarse hair [HPO term]
- Epiphyseal stippling [HPO term]
- Frontal bossing [HPO term]
- Hip contracture [HPO term]
- Hyperkeratosis with erythema [HPO term]
- Hypoplasia of the nasal bone [HPO term]
- Knee flexion contracture [HPO term]
- Low levels of vitamin K [HPO term]
- Moderate postnatal growth retardation [HPO term]
- Scoliosis [HPO term]
- Sparse hair [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
- Chondrodysplasia punctata, Sheffield type [ICD-11 More detail]
- autosomal dominant chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata, autosomal dominant [MeSH Supplementary Concept]
- chondrodysplasia punctata, autosomal dominant [MeSH concept]

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