terminal osseous dysplasia and pigmentary defects

Preferred Label : terminal osseous dysplasia and pigmentary defects;

MeSH synonym : osseous dysplasia, digital, with facial pigmentary defects and multiple frenula;

Details

Origin ID

C564554;

UMLS CUI

C1846129;

Currated CISMeF NLP mapping
- Terminal osseous dysplasia [OMIM Phenotype]
- Terminal osseous dysplasia - pigmentary defects [ICD-11 More detail]
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- fingers [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- pigmentation disorders [MeSH Descriptor]
- toes [MeSH Descriptor]
Record concept(s)
- terminal osseous dysplasia and pigmentary defects [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Terminal osseous dysplasia [OMIM Phenotype]
- Terminal osseous dysplasia - pigmentary defects [ICD-11 More detail]
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
- terminal osseous dysplasia [DO Concept]

Keyword's position in hierarchy(ies) :

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