770727008: Spinal muscular atrophy with respiratory distress type 2 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Respiratory finding\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\Spinal muscular atrophy with respiratory distress type 2

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\Spinal muscular atrophy with respiratory distress type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3702269016 SMARD2 - spinal muscular atrophy with respiratory distress type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3702270015 Spinal muscular atrophy with respiratory distress type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702271016 Diaphragmatic spinal muscular atrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702272011 Severe infantile axonal neuropathy with respiratory failure type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702273018 Spinal muscular atrophy with respiratory distress type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702275013 X-linked spinal muscular atrophy with respiratory distress en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3702274012 A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

946021000172118 amyotrophie spinale diaphragmatique type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1012671000172110 amyotrophie spinale avec détresse respiratoire type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1531701000172110 atrophie musculaire spinale avec détresse respiratoire de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

875731000172117 spinale spieratrofie met respiratoire insufficiëntie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

958871000172113 diafragmatische spinale spieratrofie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy with respiratory distress type 2	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Spinal muscular atrophy with respiratory distress type 2	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Is a	Distal spinal muscular atrophy	true	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Finding site	Structure of respiratory system (body structure)	true	Inferred relationship	Some	1
Spinal muscular atrophy with respiratory distress type 2	Is a	Respiratory failure (disorder)	true	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Is a	X-linked distal hereditary motor neuropathy	true	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Spinal muscular atrophy with respiratory distress type 2	Finding site	Nerve structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for pulmonology in patient health records (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3702269016	SMARD2 - spinal muscular atrophy with respiratory distress type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702270015	Spinal muscular atrophy with respiratory distress type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702271016	Diaphragmatic spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702272011	Severe infantile axonal neuropathy with respiratory failure type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702273018	Spinal muscular atrophy with respiratory distress type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702275013	X-linked spinal muscular atrophy with respiratory distress	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702274012	A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
946021000172118	amyotrophie spinale diaphragmatique type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1012671000172110	amyotrophie spinale avec détresse respiratoire type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1531701000172110	atrophie musculaire spinale avec détresse respiratoire de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
875731000172117	spinale spieratrofie met respiratoire insufficiëntie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
958871000172113	diafragmatische spinale spieratrofie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)