190787008: Abetalipoproteinemia (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Abetalipoproteinaemia

\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\trouble de déficit en lipoprotéines\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

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

523951000241119 abêtalipoprotéinémie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

574412019 Abetalipoproteinemia (disorder) en Fully specified name 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) SNOMED CT Common French translation module (core metadata concept)

960771000172110 hypobêtalipoprotéinémie sévère précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abetalipoproteinaemia	est un(e) (attribut)	trouble de déficit en lipoprotéines	true	Inferred relationship	Some
Abetalipoproteinaemia	survenue (attribut)	congénital	false	Inferred relationship	Some
Abetalipoproteinaemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Abetalipoproteinaemia	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)