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190787008: Abetalipoproteinemia (disorder)

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
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 Only initial character case insensitive (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 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 Only initial character 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 Only initial character case insensitive (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 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
3393551001000118 Abetalipoproteinämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
882941000172114 abêtalipoprotéinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
960771000172110 hypobêtalipoprotéinémie sévère précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
882941000172114 abêtalipoprotéinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
960771000172110 hypobêtalipoprotéinémie sévère précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393551001000118 Abetalipoproteinämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abetalipoproteinaemia Is a Lipoprotein deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Abetalipoproteinaemia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Abetalipoproteinaemia Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Abetalipoproteinaemia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) Due to True Abetalipoproteinaemia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) Is a True Abetalipoproteinaemia Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmoplegia due to abetalipoproteinemia (disorder) Due to True Abetalipoproteinaemia Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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