402788005: genetische aandoening van lipidenstapeling (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Genetic disorder of lipid storage (disorder)

\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Genetic disorder of lipid storage (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Genetic disorder of lipid storage (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1770712018 Genetic disorder of lipid storage (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781880010 Genetic disorder of lipid storage en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6103961000146117 genetische aandoening van lipidenstapeling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6103971000146111 genetische aandoening van lipidenstapeling (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7022581000146114 genetische aandoening van vetstapeling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7525351000146118 genetische vetstapelingsstoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic disorder of lipid storage (disorder)	Is a	Lipid storage disease	true	Inferred relationship	Some
Genetic disorder of lipid storage (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Genetic disorder of lipid storage (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
familiaire 'sea-blue'-histiocytose (aandoening)	Is a	False	Genetic disorder of lipid storage (disorder)	Inferred relationship	Some

This concept is not in any reference sets