National Drug File - Reference Terminology

Last uploaded: July 6, 2018
Id http://purl.bioontology.org/ontology/NDFRT/N0000001593
http://purl.bioontology.org/ontology/NDFRT/N0000001593
Preferred Name

Hyperlipidemia, Familial Combined [Disease/Finding]
Synonyms
Hyperlipidemia, Familial Combined
Familial Combined Hyperlipidemia
Hyperlipidemia, Multiple Lipoprotein-Type
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Hyperlipidemia, Familial Combined
Familial Combined Hyperlipidemia
Hyperlipidemia, Multiple Lipoprotein-Type
prefLabel
Hyperlipidemia, Familial Combined [Disease/Finding]
notation
N0000001593
May be treated by
MESH DEFINITION
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
MESH UI
M0010832
subClassOf
Semantic type UMLS property
MeSH name
Hyperlipidemia, Familial Combined
NDFRT kind
DISEASE_KIND
type
SNOMED CID
238040008
299465007
267434003
tui
T047
NUI
N0000001593
cui
C0020474
MESH DUI
D006950
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display