39390005: Niemann-Pick disease, type B (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type B
\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 B

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

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

66053013 Niemann-Pick disease, type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

66054019 Niemann-Pick disease, chronic non-neuronopathic en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

775833011 Niemann-Pick disease, type B (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229519010 Niemann-Pick disease type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229520016 Niemann-Pick disease non-neuropathic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

884131000172110 maladie de Niemann-Pick type B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

939011000172119 ziekte van Niemann-Pick type B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

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This concept is not in any reference sets