402788005: Genetic disorder of lipid storage (disorder)

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

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

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

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

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 Only initial character 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

5261621000241119 maladie génétique du stockage des lipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5261621000241119 maladie génétique du stockage des lipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial sea-blue histiocytosis	Is a	False	Genetic disorder of lipid storage (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets