lipodystrophy, congenital generalized

Preferred Label : lipodystrophy, congenital generalized;

MeSH definition : Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.;

MeSH synonym : lipodystrophy, berardinelli-seip congenital; generalized lipodystrophy, congenital; congenital generalized lipodystrophy; congenital generalized lipodystrophies; generalized lipodystrophies, congenital; lipodystrophies, congenital generalized; berardinelli-seip congenital lipodystrophy; berardinelli seip congenital lipodystrophy; congenital lipodystrophy, berardinelli-seip; Berardinelli-Seip syndrome; berardinelli seip syndrome; syndrome, Berardinelli-Seip; brunzell syndrome (with bone cysts); syndrome, brunzell (with bone cysts); generalized lipodystrophy; generalized lipodystrophies; lipodystrophies, generalized; lipodystrophy, generalized; total lipodystrophy; lipodystrophies, total; lipodystrophy, total; total lipodystrophies;

CISMeF synonym : Agpat2-Related brunzell syndromes; brunzell syndromes, Agpat2-Related; brunzell syndromes, Bscl2-Related; Bscl2-Related brunzell syndromes; syndromes, Agpat2-Related brunzell; syndromes, Bscl2-Related brunzell;

MeSH hyponym : congenital generalized lipodystrophy type 2; congenital generalized lipodystrophy type 1; Brunzell Syndrome, AGPAT2-Related; AGPAT2-Related Brunzell Syndrome; Brunzell Syndrome, AGPAT2 Related; Syndrome, AGPAT2-Related Brunzell; Lipodystrophy, Berardinelli-Seip Congenital, Type 1; Lipodystrophy, Congenital Generalized, Type 1; Berardinelli-Seip Congenital Lipodystrophy Type 1; Berardinelli Seip Congenital Lipodystrophy Type 1; Berardinelli-Seip Congenital Lipodystrophy, Type 1; Berardinelli Seip Congenital Lipodystrophy, Type 1; Berardinelli-Seip Congenital Lipodystrophy Type 2; Berardinelli Seip Congenital Lipodystrophy Type 2; Berardinelli-Seip Congenital Lipodystrophy, Type 2; Berardinelli Seip Congenital Lipodystrophy, Type 2; Brunzell Syndrome; Syndrome, Brunzell; Congenital Lipoatrophic Diabetes; Congenital Lipoatrophic Diabete; Diabete, Congenital Lipoatrophic; Diabetes, Congenital Lipoatrophic; Lipoatrophic Diabete, Congenital; Brunzell Syndrome, BSCL2-Related; BSCL2-Related Brunzell Syndrome; Brunzell Syndrome, BSCL2 Related; Syndrome, BSCL2-Related Brunzell; Lipodystrophy, Berardinelli-Seip Congenital, Type 2; Lipodystrophy, Congenital Generalized, Type 2; Lipodystrophy, Total, And Acromegaloid Gigantism; Seip Syndrome; Syndrome, Seip; Total Lipodystrophy and Acromegaloid Gigantism; Berardinelli Syndrome; Syndrome, Berardinelli; Lipoatrophic Diabetes, Congenital;

Details

Origin ID

D052497;

UMLS CUI

C0221032;

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)
- Berardinelli-Seip congenital lipodystrophy [ICD-11 More detail]
- Congenital lipoatrophic diabetes [MedDRA LLT]
- Generalized lipodystrophy [MedDRA LLT]
- Generalized lipodystrophy [HPO term]
- Systemic cystic angiomatosis-Seip syndrome [ORDO Disease]
- Total lipodystrophy [MedDRA LLT]
- congenital generalized lipodystrophy type 1 [DO Concept]
- congenital generalized lipodystrophy type 2 [DO Concept]
Currated CISMeF NLP mapping
- Berardinelli-Seip Congenital Lipodystrophy [NCIt concept]
- Berardinelli-Seip syndrome [MedDRA LLT]
- Congenital generalised lipodystrophy [ICD-11 Sub-sub category]
- Congenital generalised lipodystrophy [MedDRA Preferred Term]
- Congenital generalized lipodystrophy [HPO term]
- Congenital generalized lipodystrophy [ORDO Disease]
- Congenital generalized lipodystrophy [MedDRA LLT]
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Familial generalized lipodystrophy (disorder) [Inactive SNOMED CT concept]
- Lipodystrophy, congenital generalized [OMIM phenotypic series]
- congenital generalized lipodystrophy [DO Concept]
- congenital generalized lipodystrophy [Disease (Nov.)]
- familial generalized lipodystrophy [SNOMED Notion]
- lipodystrophy, nos [SNOMED Notion]
HPO term
- Congenital generalized lipodystrophy [HPO term]
- Generalized lipodystrophy [HPO term]
Manual NTBT mappings (CISMeF)
- Genetic lipodystrophy [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
Record concept(s)
- congenital generalized lipodystrophy type 1 [MeSH concept]
- congenital generalized lipodystrophy type 2 [MeSH concept]
- lipodystrophy, congenital generalized [MeSH concept]
Related MeSH Supplementary Concept(s)
- lipodystrophy, congenital generalized, type 3 [MeSH Supplementary Concept]
- lipodystrophy, congenital generalized, type 4 [MeSH Supplementary Concept]
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Berardinelli-Seip Congenital Lipodystrophy [NCIt concept]
- Berardinelli-Seip syndrome [MedDRA LLT]
- Congenital generalised lipodystrophy [MedDRA Preferred Term]
- Congenital generalised lipodystrophy [ICD-11 Sub-sub category]
- Congenital generalized lipodystrophy [MedDRA LLT]
- Congenital generalized lipodystrophy [HPO term]
- Congenital generalized lipodystrophy [ORDO Disease]
- Congenital lipoatrophic diabetes [MedDRA LLT]
- Congenital lipodystrophy [MedDRA LLT]
- Congenital total lipoatrophy (disorder) [Inactive SNOMED CT concept]
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Familial generalized lipodystrophy (disorder) [Inactive SNOMED CT concept]
- Generalized lipodystrophy [HPO term]
- Lawrence-Seip syndrome [MedDRA LLT]
- Lipodystrophy congenital [MedDRA LLT]
- Total lipodystrophy [MedDRA LLT]
- congenital generalized lipodystrophy [DO Concept]
- congenital generalized lipodystrophy [Disease (Nov.)]
- congenital lipodystrophy [Disease (Nov.)]
- familial generalized lipodystrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- Lipodystrophy, congenital generalized, type 1 [OMIM Phenotype]
- Lipodystrophy, congenital generalized, type 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Generalized Lipodystrophy [NCIt concept]

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