33513003: familiaire deficiëntie van apolipoproteïne CII (aandoening)

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

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\...

\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency

\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency

\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Disease\Familial disease\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)\Familial apolipoprotein C-II deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial apolipoprotein C-II deficiency	Is a	Familial hyperchylomicronemia	false	Inferred relationship	Some
Familial apolipoprotein C-II deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Familial apolipoprotein C-II deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Familial apolipoprotein C-II deficiency	Has definitional manifestation	Serum lipids above reference range (finding)	false	Inferred relationship	Some
Familial apolipoprotein C-II deficiency	Has definitional manifestation	Lipid above reference range	false	Inferred relationship	Some
Familial apolipoprotein C-II deficiency	Interprets	Lipids measurement	true	Inferred relationship	Some	1
Familial apolipoprotein C-II deficiency	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial apolipoprotein C-II deficiency	Is a	Familial chylomicronemia syndrome (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
hyperlipoproteïnemie type 1 volgens Frederickson-classificatie (aandoening)	Is a	False	Familial apolipoprotein C-II deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
55921014	Familial apolipoprotein C-II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
55923012	Anapolipoproteinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485540016	Anapolipoproteinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
764927011	Familial apolipoprotein C-II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696705016	Familial apoC-II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7362591000146115	familiaire APO-C2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8126751000146114	familiaire-apolipoproteïne-C-II-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8597581000146113	familiaire deficiëntie van apolipoproteïne CII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8597591000146110	familiaire deficiëntie van apoCII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8597601000146117	familiaire deficiëntie van apolipoproteïne CII (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)