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 (disorder)\Niemann-Pick disease, type A (disorder)

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

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

\Disorder of foetus and/or newborn\Congenital disease\...

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

\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Sphingomyelin/cholesterol lipidosis (disorder)\Niemann-Pick disease, type A (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Niemann-Pick disease, type A (disorder)	Is a	Sphingomyelin/cholesterol lipidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type A (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type A (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Niemann-Pick disease, type A (disorder)	Associated morphology	Foam cell	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type A (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Niemann-Pick disease, type A (disorder)	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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	Only initial character case insensitive (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	Only initial character case insensitive (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	Only initial character case insensitive (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
3446161001000115	Saure Sphingomyelinase-Mangel, infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
931041000172116	maladie de Niemann-Pick type A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
931041000172116	maladie de Niemann-Pick type A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446161001000115	Saure Sphingomyelinase-Mangel, infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module