58459009: Sphingomyelin/cholesterol lipidosis (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)

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

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis (disorder)
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis (disorder)
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

797193019 Sphingomyelin/cholesterol lipidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sphingomyelin/cholesterol lipidosis (disorder)	est un(e) (attribut)	Lipoidosis	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	est un(e) (attribut)	maladie de surchage lipidique	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	est un(e) (attribut)	Sphingolipidosis	true	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	morphologie associée (attribut)	Niemann-Pick cell (cell)	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	morphologie associée (attribut)	Foam cell (cell)	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

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

This concept is not in any reference sets