National Drug File - Reference Terminology

Last uploaded: July 6, 2018
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Preferred Name

Lipodystrophy, Congenital Generalized [Disease/Finding]
Synonyms

Berardinelli-Seip Congenital Lipodystrophy

Congenital Generalized Lipodystrophy

Generalized Lipodystrophy

Brunzell Syndrome (with Bone Cysts)

Total Lipodystrophy

Berardinelli-Seip Syndrome

Lipodystrophy, Congenital Generalized
ID

http://purl.bioontology.org/ontology/NDFRT/N0000181065
altLabel

Berardinelli-Seip Congenital Lipodystrophy

Congenital Generalized Lipodystrophy

Generalized Lipodystrophy

Brunzell Syndrome (with Bone Cysts)

Total Lipodystrophy

Berardinelli-Seip Syndrome

Lipodystrophy, Congenital Generalized
cui

C0221032
MESH DEFINITION

Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
MESH DUI

D052497
MeSH name

Lipodystrophy, Congenital Generalized
MESH UI

M0487299
NDFRT kind

DISEASE_KIND
notation

N0000181065
NUI

N0000181065
prefLabel

Lipodystrophy, Congenital Generalized [Disease/Finding]
tui

T047
subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000001848
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10053547 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10053432 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073668 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10053547 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DB-61720 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10044095 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86907008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10053432 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10073666 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/284449005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10053860 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10073668 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D052497 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10073668 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010533 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073666 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10049286 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073666 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/284449005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/DB-61710 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10053860 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10053860 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10010533 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10010533 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10044095 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10049286 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU053588 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/86907008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10044095 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10049286 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053547 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40JO RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10053432 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU042895 OMIM CUI