mandibuloacral dysplasia with type B lipodystrophy

Preferred Label : mandibuloacral dysplasia with type B lipodystrophy;

MeSH note : Autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Associated with mutations in the gene encoding ZMPSTE24 protein.;

MeSH synonym : lipodystrophy, type B, associated with mandibuloacral dysplasia;

Détails

Origin ID

C535706;

UMLS CUI

C1837756;

Currated CISMeF NLP mapping
- Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type B lipodystrophy [ICD-11 More detail]
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type b lipodystrophy [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- lipodystrophy [MeSH Descriptor]
ORDO relation(s)
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
Record concept(s)
- Mandibuloacral dysplasia with type B lipodystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type B lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type b lipodystrophy [OMIM Phenotype]
Validated automatic mappings to NTBT
- Mandibuloacral dysplasia [ORDO Disease]

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