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190787008: Abetalipoproteinemia (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293308019 ABL - Abetalipoproteinaemia en Synonym Active Case sensitive SNOMED CT core
293309010 Abetalipoproteinaemia en Synonym Active Case insensitive SNOMED CT core
293310017 Apolipoprotein B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
293311018 Abetalipoproteinemia en Synonym Active Case insensitive SNOMED CT core
293312013 ABL - Abetalipoproteinemia en Synonym Active Case sensitive SNOMED CT core
3491689017 Bassen-Kornzweig disease en Synonym Active Case sensitive SNOMED CT core
3491690014 Homozygous familial hypobetalipoproteinaemia en Synonym Active Case insensitive SNOMED CT core
3943109019 Homozygous familial hypobetalipoproteinemia en Synonym Active Case insensitive SNOMED CT core
574412019 Abetalipoproteinemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core


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 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
Ophthalmoplegia due to abetalipoproteinaemia Due to True Abetalipoproteinaemia Inferred relationship Some 1
Ataxia co-occurrent and due to abetalipoproteinaemia Due to True Abetalipoproteinaemia Inferred relationship Some 1
Ataxia co-occurrent and due to abetalipoproteinaemia Is a True Abetalipoproteinaemia Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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