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\Familial hypobetalipoproteinaemia

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinaemia

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypobetalipoproteinaemia	Is a	Lipoprotein deficiency disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypobetalipoproteinaemia	Is a	Familial lipoprotein deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypobetalipoproteinaemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial hypobetalipoproteinaemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypobetalipoproteinemia - homozygous form (disorder)	Is a	True	Familial hypobetalipoproteinaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypobetalipoproteinaemia - heterozygous form	Is a	True	Familial hypobetalipoproteinaemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
99986017	Familial hypobetalipoproteinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
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