52165006: Niemann-Pick disease, type A (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Niemann-Pick disease, type A (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type A (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Niemann-Pick disease, type A (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type A (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Niemann-Pick disease, type A (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Niemann-Pick disease, type A (disorder)

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

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

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

86818013 Niemann-Pick disease, type A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

86819017 Niemann-Pick disease, acute neuropathic form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

86820011 Classical Niemann-Pick disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

86821010 Niemann-Pick disease, acute neurovisceral form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

790144014 Niemann-Pick disease, type A (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1231085011 Niemann-Pick disease neuropathic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1231086012 Niemann-Pick disease type A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

931041000172116 maladie de Niemann-Pick type A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

995411000172115 ziekte van Niemann-Pick type A 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 A (disorder)	Is a	Sphingomyelin/cholesterol lipidosis	true	Inferred relationship	Some
Niemann-Pick disease, type A (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Niemann-Pick disease, type A (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Niemann-Pick disease, type A (disorder)	Associated morphology	Foam cell	false	Inferred relationship	Some
Niemann-Pick disease, type A (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Niemann-Pick disease, type A (disorder)	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets