polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Preferred Label : polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;

MeSH synonym : dementia, prefrontal, with bone cysts; presenile dementia with bone cysts; Nasu-Hakola disease; PLOSL; brain-bone-fat disease; dementia, progressive, with lipomembranous polycystic osteodysplasia; Plo-Sl;

Details

Origin ID

C536329;

UMLS CUI

C1857316;

Automatic exact mappings (from CISMeF team)
- Membranous lipodystrophy [PASCAL descriptor]
- TYROBP wt Allele [NCIt concept]
- transmembrane immune signaling adaptor TYROBP [ORDO Gene]
Currated CISMeF NLP mapping
- Nasu-Hakola disease [PASCAL descriptor]
- Nasu-Hakola disease [DO Concept]
- Nasu-Hakola disease [ORDO Disease]
- Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy [ICD-11 More detail]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) [SNOMED CT concept]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [OMIM Phenotype]
DO Cross reference
- Nasu-Hakola disease [DO Concept]
MeSH term(s) associated for indexing
- lipodystrophy [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- subacute sclerosing panencephalitis [MeSH Descriptor]
ORDO relation(s)
- Nasu-Hakola disease [ORDO Disease]
Record concept(s)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nasu-Hakola disease [ORDO Disease]
- Nasu-Hakola disease [DO Concept]
- Nasu-Hakola disease [PASCAL descriptor]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) [SNOMED CT concept]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [OMIM Phenotype]

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