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

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

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

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

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

110890015 Niemann-Pick disease, type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

455101000241112 maladie de Niemann-Pick type C (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

967061000172117 maladie de Niemann-Pick type C 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
Niemann-Pick disease, type C	est un(e) (attribut)	Sphingomyelin/cholesterol lipidosis (disorder)	true	Inferred relationship	Some
Niemann-Pick disease, type C	morphologie associée (attribut)	Foam cell (cell)	false	Inferred relationship	Some
Niemann-Pick disease, type C	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Niemann-Pick disease, type C	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Niemann-Pick disease, type C	morphologie associée (attribut)	Niemann-Pick cell (cell)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type C, subacute form	est un(e) (attribut)	True	Niemann-Pick disease, type C	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	est un(e) (attribut)	True	Niemann-Pick disease, type C	Inferred relationship	Some
Niemann-Pick disease, type C, acute form	est un(e) (attribut)	True	Niemann-Pick disease, type C	Inferred relationship	Some

This concept is not in any reference sets