metaphyseal dysplasia without hypotrichosis

Preferred Label : metaphyseal dysplasia without hypotrichosis;

MeSH synonym : Cartilage-Hair Hypoplasia-Like skeletal dysplasia without hypotrichosis or immunodeficiency; Cartilage-Hair hypoplasia variant, skeletal manifestations only;

Details

Origin ID

C563574;

UMLS CUI

C1834821;

Currated CISMeF NLP mapping
- Metaphyseal dysplasia without hypotrichosis [OMIM Phenotype]
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- metaphyseal dysplasia without hypotrichosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia without hypotrichosis [OMIM Phenotype]
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

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