190787008: Abetalipoproteinemia (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Abetalipoproteinaemia

\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipoprotein deficiency disorder\Abetalipoproteinaemia

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

293308019 ABL - Abetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

293309010 Abetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293310017 Apolipoprotein B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

293311018 Abetalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293312013 ABL - Abetalipoproteinemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

574412019 Abetalipoproteinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3491689017 Bassen-Kornzweig disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3491690014 Homozygous familial hypobetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3943109019 Homozygous familial hypobetalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

882941000172114 abêtalipoprotéinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

960771000172110 hypobêtalipoprotéinémie sévère précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

912271000172115 abètalipoproteïnemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

961931000172117 homozygote familiale hypobètalipoproteïnemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abetalipoproteinaemia	Is a	Lipoprotein deficiency disorder	true	Inferred relationship	Some
Abetalipoproteinaemia	Occurrence	Congenital	false	Inferred relationship	Some
Abetalipoproteinaemia	Finding site	Body system structure	false	Inferred relationship	Some
Abetalipoproteinaemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ataxia co-occurrent and due to abetalipoproteinemia (disorder)	Due to	True	Abetalipoproteinaemia	Inferred relationship	Some	1
Ataxia co-occurrent and due to abetalipoproteinemia (disorder)	Is a	True	Abetalipoproteinaemia	Inferred relationship	Some
Ophthalmoplegia due to abetalipoproteinemia (disorder)	Due to	True	Abetalipoproteinaemia	Inferred relationship	Some	1

This concept is not in any reference sets