711483003: amyotrophie spinale avec détresse respiratoire type 1 (trouble)

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

\Genetic disease\maladie héréditaire\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy with respiratory distress type 1	localisation d'une constatation (attribut)	structure d'un nerf	true	Inferred relationship	Some	2
Spinal muscular atrophy with respiratory distress type 1	localisation d'une constatation (attribut)	structure du système nerveux périphérique	true	Inferred relationship	Some	1
Spinal muscular atrophy with respiratory distress type 1	est un(e) (attribut)	Autosomal recessive distal hereditary motor neuropathy (disorder)	true	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	est un(e) (attribut)	Distal spinal muscular atrophy	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3078675010	Distal spinal muscular atrophy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078677019	Distal hereditary motor neuronopathy type VI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3078725019	Severe infantile axonal neuropathy with respiratory failure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078729013	Spinal muscular atrophy with respiratory distress type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078769014	Spinal muscular atrophy with respiratory distress type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078773012	Spinal muscular atrophy with respiratory distress	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078857011	Autosomal recessive distal spinal muscular atrophy 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078899012	Diaphragmatic spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
743281000241115	amyotrophie spinale avec détresse respiratoire type 1 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
916151000172116	amyotrophie spinale avec détresse respiratoire type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
998051000172118	amyotrophie spinale autosomique récessive avec détresse respiratoire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)