Chondrodysplasia punctata, tibia-metacarpal type

Preferred Label : Chondrodysplasia punctata, tibia-metacarpal type;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Chondrodysplasia punctata, mt type;

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

Inheritance : Autosomal dominant;

Prefixed ID : %118651;

Details

Origin ID

118651;

UMLS CUI

C0432224;

Automatic exact mappings (from CISMeF team)
- Chondrodysplasia punctata, tibia-metacarpal type (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [MeSH Descriptor]
Currated CISMeF NLP mapping
- Chondrodysplasia punctata, tibial-metacarpal type [ICD-11 More detail]
- Chondrodysplasia punctata, tibial-metacarpal type [ORDO Disease]
- chondrodysplasia punctata, Tibia-Metacarpal type [MeSH concept]
- chondrodysplasia punctata, Tibia-Metacarpal type [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant chondrodysplasia punctata [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calcific stippling [HPO term]
- Coronal cleft vertebrae [HPO term]
- Depressed nasal ridge [HPO term]
- Epiphyseal stippling [HPO term]
- Limb undergrowth [HPO term]
- Malar flattening [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Short 2nd metacarpal [HPO term]
- Short 3rd metacarpal [HPO term]
- Short 4th metacarpal [HPO term]
- Short long bone [HPO term]
- Short second and third or third and fourth metacarpals [HPO term]
- Short tibia [HPO term]
ORDO concept(s)
- Chondrodysplasia punctata, tibial-metacarpal type [ORDO Disease]
See also inter- (CISMeF)
- autosomal dominant chondrodysplasia punctata [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata, tibia-metacarpal type (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, tibial-metacarpal type [ORDO Disease]
- Chondrodysplasia punctata, tibial-metacarpal type [ICD-11 More detail]
- chondrodysplasia punctata, Tibia-Metacarpal type [MeSH Supplementary Concept]
- chondrodysplasia punctata, Tibia-Metacarpal type [MeSH concept]

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