33513003: Familial apolipoprotein C-II deficiency (disorder)

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:

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

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
Fredrickson type I hyperlipoproteinemia	Is a	False	Familial apolipoprotein C-II deficiency	Inferred relationship	Some

This concept is not in any reference sets