66751000: Niemann-Pick disease, type C (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C

\Metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C

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

110890015 Niemann-Pick disease, type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
500515016 Supraoptic vertical ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
500516015 Niemann-Pick disease type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
806399018 Niemann-Pick disease, type C (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
833761000052117 Niemann-Picks sjukdom, typ C sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Niemann-Pick disease, type C	Is a	Sphingomyelin/cholesterol lipidosis	true	Inferred relationship	Some
Niemann-Pick disease, type C	Associated morphology	Foam cell	false	Inferred relationship	Some
Niemann-Pick disease, type C	Finding site	Body system structure	false	Inferred relationship	Some
Niemann-Pick disease, type C	Occurrence	Congenital	true	Inferred relationship	Some	1
Niemann-Pick disease, type C	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type C, subacute form (disorder)	Is a	True	Niemann-Pick disease, type C	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Is a	True	Niemann-Pick disease, type C	Inferred relationship	Some
Niemann-Pick disease, type C, acute form	Is a	True	Niemann-Pick disease, type C	Inferred relationship	Some

This concept is not in any reference sets