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

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

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

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

\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Sphingomyelin/cholesterol lipidosis (disorder)\Niemann-Pick disease, type C (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 C (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis (disorder)\Niemann-Pick disease, type C (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Sphingomyelin/cholesterol lipidosis (disorder)\Niemann-Pick disease, type C (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 C (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 C (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 C (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 C (disorder)	Is a	Sphingomyelin/cholesterol lipidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C (disorder)	Associated morphology	Foam cell	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Niemann-Pick disease, type C (disorder)	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type C, subacute form (disorder)	Is a	True	Niemann-Pick disease, type C (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C, chronic form	Is a	True	Niemann-Pick disease, type C (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C, acute form	Is a	True	Niemann-Pick disease, type C (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dystonia due to Niemann-Pick disease type C (disorder)	Due to	True	Niemann-Pick disease, type C (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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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
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	Only initial character case insensitive (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	Only initial character case insensitive (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
3435051001000112	Niemann-Pick-Krankheit Typ C	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967061000172117	maladie de Niemann-Pick type C	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967061000172117	maladie de Niemann-Pick type C	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435051001000112	Niemann-Pick-Krankheit Typ C	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module