49973006: Familial lipoprotein deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency (disorder)

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

83235013 Familial lipoprotein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787710013 Familial lipoprotein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4553151000241113 déficit familial en lipoprotéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial lipoprotein deficiency (disorder)	Is a	Inborn error of lipoprotein metabolism	true	Inferred relationship	Some
Familial lipoprotein deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Familial lipoprotein deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypoalphalipoproteinemia	Is a	True	Familial lipoprotein deficiency (disorder)	Inferred relationship	Some
Familial hypobetalipoproteinemia	Is a	True	Familial lipoprotein deficiency (disorder)	Inferred relationship	Some
A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.	Is a	True	Familial lipoprotein deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets