711483003: spinale spieratrofie met respiratoire insufficiëntie type 1 (aandoening)

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

\Genetic disease\Hereditary disease\...

\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

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\Disorder of body system\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
\Disorder of body system\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
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\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	Is a	Distal spinal muscular atrophy	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Finding site	Nerve structure	true	Inferred relationship	Some	2
Spinal muscular atrophy with respiratory distress type 1	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Spinal muscular atrophy with respiratory distress type 1	Is a	Autosomal recessive distal hereditary motor neuropathy (disorder)	true	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	Autosomal recessive hereditary motor neuron disease (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6397581000146116	spinale spieratrofie met ademnood type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6397601000146112	autosomaal recessieve distale spinale spieratrofie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728431000146114	spinale spieratrofie met respiratoire insufficiëntie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728441000146118	spinale spieratrofie met respiratoire insufficiëntie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7744531000146119	SMA-RD type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7744571000146117	SMA met respiratoire distress type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)