60193003: Familial hypobetalipoproteinemia (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)\Familial hypobetalipoproteinemia

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

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

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

99986017 Familial hypobetalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

498671019 Familial hypobetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799118017 Familial hypobetalipoproteinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6149681000241111 hypobêtalipoprotéinémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6149691000241113 HBL (hypobêtalipoprotéinémie) familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6149701000241113 HBLF - hypobêtalipoprotéinémie familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypobetalipoproteinemia - homozygous form	Is a	True	Familial hypobetalipoproteinemia	Inferred relationship	Some
Familial hypobetalipoproteinaemia - heterozygous form	Is a	True	Familial hypobetalipoproteinemia	Inferred relationship	Some
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	Is a	True	Familial hypobetalipoproteinemia	Inferred relationship	Some

This concept is not in any reference sets