361000146109: autosomaal dominante spinale spieratrofie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\...

\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)

\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Is a	Autosomal dominant hereditary motor neuron disease (disorder)	true	Inferred relationship	Some
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant congenital benign spinal muscular atrophy	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some
Distal hereditary motor neuropathy type 7	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some
Distal hereditary motor neuropathy type 1 (disorder)	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some
Lower motor neuron syndrome with late-adult onset (disorder)	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some
Autosomal dominant adult-onset proximal spinal muscular atrophy	Is a	True	Autosomal dominant hereditary spinal muscular atrophy (disorder)	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5951000146114	Autosomal dominant hereditary spinal muscular atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5961000146112	Autosomal dominant hereditary spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
28931000146118	autosomaal dominante spinale spieratrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4185451000146116	autosomaal dominante spinale spieratrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4185461000146118	AD SMA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)