39390005: Niemann-Pick disease, type B (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)\maladie de Niemann-Pick type B (trouble)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis (disorder)\maladie de Niemann-Pick type B (trouble)

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

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)\maladie de Niemann-Pick type B (trouble)

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

1229519010 Niemann-Pick disease type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229520016 Niemann-Pick disease non-neuropathic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

424801000241118 maladie de Niemann-Pick type B (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

66053013 Niemann-Pick disease, type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

66054019 Niemann-Pick disease, chronic non-neuronopathic en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

775833011 Niemann-Pick disease, type B (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

884131000172110 maladie de Niemann-Pick type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets