238093009: familiaire hypobètalipoproteïnemie - homozygote vorm (aandoening)

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 hypobetalipoproteinemia\Familial hypobetalipoproteinemia - homozygous form

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinemia\Familial hypobetalipoproteinemia - homozygous form

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

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

356909016 Familial hypobetalipoproteinemia - homozygous form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356910014 Familial hypobetalipoproteinaemia - homozygous form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626927013 Familial hypobetalipoproteinemia - homozygous form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6023031000146113 familiaire hypobètalipoproteïnemie - homozygote vorm nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6023041000146117 familiaire hypobètalipoproteïnemie - homozygote vorm (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6023281000146118 familiale hypobètalipoproteïnemie - homozygote vorm nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypobetalipoproteinemia - homozygous form	Is a	Familial hypobetalipoproteinemia	true	Inferred relationship	Some
Familial hypobetalipoproteinemia - homozygous form	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial hypobetalipoproteinemia - homozygous form	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets