52165006: Niemann-Pick disease, type A (disorder)

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

\Genetic disease\maladie héréditaire\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (trouble)

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (trouble)
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)\maladie de Niemann-Pick type A (trouble)

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

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (trouble)
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (trouble)

\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (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 A (trouble)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)\maladie de Niemann-Pick type A (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 A (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 A (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 A (trouble)

\Congenital disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\maladie de Niemann-Pick type A (trouble)

\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Sphingomyelin/cholesterol lipidosis (disorder)\maladie de Niemann-Pick type A (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

1231085011 Niemann-Pick disease neuropathic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1231086012 Niemann-Pick disease type A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

438631000241116 maladie de Niemann-Pick type A (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

790144014 Niemann-Pick disease, type A (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

86818013 Niemann-Pick disease, type A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

86819017 Niemann-Pick disease, acute neuropathic form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

86820011 Classical Niemann-Pick disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

86821010 Niemann-Pick disease, acute neurovisceral form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

931041000172116 maladie de Niemann-Pick type A 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 A (trouble)	est un(e) (attribut)	Sphingomyelin/cholesterol lipidosis (disorder)	true	Inferred relationship	Some
maladie de Niemann-Pick type A (trouble)	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
maladie de Niemann-Pick type A (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
maladie de Niemann-Pick type A (trouble)	morphologie associée (attribut)	Foam cell (cell)	false	Inferred relationship	Some
maladie de Niemann-Pick type A (trouble)	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
maladie de Niemann-Pick type A (trouble)	morphologie associée (attribut)	Niemann-Pick cell (cell)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)