lipodystrophy, familial partial

Preferred Label : lipodystrophy, familial partial;

MeSH definition : Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.;

MeSH synonym : familial partial lipodystrophies; partial lipodystrophy, familial; familial partial lipodystrophy; koberling-dunnigan syndrome; koberling dunnigan syndrome;

CISMeF synonym : lipodystrophies, familial partial; partial lipodystrophies, familial;

MeSH hyponym : familial partial lipodystrophy, type 3; familial partial lipodystrophy, type 2; familial partial lipodystrophy, type 1; Lipodystrophy, Familial, of Limbs and Lower Trunk; Lipodystrophy, Familial Partial, Type 2; Lipodystrophy, Reverse Partial; Lipodystrophies, Reverse Partial; Partial Lipodystrophies, Reverse; Partial Lipodystrophy, Reverse; Reverse Partial Lipodystrophies; Reverse Partial Lipodystrophy; Dunnigan Syndrome; Syndrome, Dunnigan; Lipodystrophy, Familial Partial, Dunnigan Type; Lipodystrophy, Familial Partial, Associated With PPARg Mutations; Lipodystrophy, Familial Partial, Type 3; Lipodystrophy, Familial Partial, Kobberling Type; Lipodystrophy, Familial Partial, Type 1; Familial Partial Lipodystrophy, Kobberling Type;

Details

Origin ID

D052496;

UMLS CUI

C0271694;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Familial partial lipodystrophy associated with PPARG mutations [ICD-11 More detail]
- Familial partial lipodystrophy, Dunnigan type [ICD-11 More detail]
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
- Familial partial lipodystrophy, Köbberling type [ICD-11 More detail]
- Lipodystrophy, familial partial, type 1 [OMIM Phenotype]
- Lipodystrophy, familial partial, type 2 [OMIM Phenotype]
- Lipodystrophy, familial partial, type 3 [OMIM Phenotype]
- PPARG-related familial partial lipodystrophy [ORDO Disease]
- familial partial lipodystrophy type 1 [DO Concept]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy type 3 [DO Concept]
Currated CISMeF NLP mapping
- Familial Partial Lipodystrophy [NCIt concept]
- Familial partial lipodystrophy [ICD-11 More detail]
- Familial partial lipodystrophy [MedDRA Preferred Term]
- Familial partial lipodystrophy [ORDO Disease]
- Familial partial lipodystrophy (disorder) [SNOMED CT concept]
- Lipodystrophy, familial partial [OMIM phenotypic series]
- familial lipodystrophy of limbs and trunk [SNOMED Notion]
- familial partial lipodystrophy [DO Concept]
- familial partial lipodystrophy [Disease (Nov.)]
DO Cross reference
- familial partial lipodystrophy [DO Concept]
- familial partial lipodystrophy type 1 [DO Concept]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy type 3 [DO Concept]
Manual BTNT mappings - CISMeF
- AKT2-related familial partial lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia [ORDO Disease]
- PPARG-related familial partial lipodystrophy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic lipodystrophy [ORDO Disease]
- Nuclear cell envelopathy [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
ORDO relation(s)
- Familial partial lipodystrophy [ORDO Disease]
Record concept(s)
- familial partial lipodystrophy, type 1 [MeSH concept]
- familial partial lipodystrophy, type 2 [MeSH concept]
- familial partial lipodystrophy, type 3 [MeSH concept]
- lipodystrophy, familial partial [MeSH concept]
Related MeSH Supplementary Concept(s)
- lipodystrophy with congenital cataracts and neurodegeneration [MeSH Supplementary Concept]
See also
- ppar gamma [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Partial Lipodystrophy [NCIt concept]
- Familial partial lipodystrophy [ORDO Disease]
- Familial partial lipodystrophy [MedDRA Preferred Term]
- Familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial lipodystrophy of limbs and trunk [SNOMED Notion]
- familial partial lipodystrophy [DO Concept]
- familial partial lipodystrophy [Disease (Nov.)]
Validated automatic mappings to BTNT
- Familial Partial Lipodystrophy Type 2 [NCIt concept]
- Familial partial lipodystrophy Kobberling type (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy type 2 (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Köbberling type [ORDO Disease]

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