238094003: Familial hypobetalipoproteinemia - heterozygous form (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\Familial hypobetalipoproteinaemia - heterozygous form

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

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

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 - heterozygous form	Is a	Familial hypobetalipoproteinaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypobetalipoproteinaemia - heterozygous form	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypobetalipoproteinaemia - heterozygous form	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356911013	Familial hypobetalipoproteinaemia - heterozygous form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356912018	Familial hypobetalipoproteinemia - heterozygous form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626928015	Familial hypobetalipoproteinemia - heterozygous form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356911013	Familial hypobetalipoproteinaemia - heterozygous form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356911013	Familial hypobetalipoproteinaemia - heterozygous form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356912018	Familial hypobetalipoproteinemia - heterozygous form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356912018	Familial hypobetalipoproteinemia - heterozygous form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626928015	Familial hypobetalipoproteinemia - heterozygous form (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626928015	Familial hypobetalipoproteinemia - heterozygous form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5021921000241111	hypobêta-lipoprotéinémie familiale, forme hétérozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021921000241111	hypobêta-lipoprotéinémie familiale, forme hétérozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module