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58459009: Sphingomyelin/cholesterol lipidosis (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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis

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

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sphingomyelin/cholesterol lipidosis	Is a	Lipoidosis	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	Lipid storage disease	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Is a	Sphingolipidosis	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Associated morphology	Foam cell	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Finding site	Body system structure	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type D	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type B	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type A (disorder)	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type C	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
maladie de Niemann-Pick type E	Is a	False	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Cerebral degeneration in Niemann-Pick disease	Due to	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
97145019	Sphingomyelin/cholesterol lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97146018	Neuronal cholesterol lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97149013	Sphingomyelinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97154016	Niemann-Pick disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
97155015	Sphingomyelin lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
797193019	Sphingomyelin/cholesterol lipidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7776191000172113	maladie de Niemann-Pick	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7776201000172111	déficit en sphingomyélinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7776211000172114	lipidose à sphingomyéline et/ou cholestérol	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4465581000172118	ziekte van Niemann-Pick	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)