metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands

Preferred Label : metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands;

MeSH synonym : cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly;

Details

Origin ID

C537354;

UMLS CUI

C1864944;

Currated CISMeF NLP mapping
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands [OMIM Phenotype]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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