64383006: spinale spieratrofie type 1 (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 recessive hereditary motor neuron disease (disorder)\Werdnig-Hoffmann disease

\Spinal muscular atrophy\Werdnig-Hoffmann disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary motor neuron disease (disorder)\Werdnig-Hoffmann disease

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)\Werdnig-Hoffmann disease
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Anterior horn cell disease (disorder)\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)\Werdnig-Hoffmann disease
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Werdnig-Hoffmann disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Werdnig-Hoffmann disease	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Werdnig-Hoffmann disease	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Werdnig-Hoffmann disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Werdnig-Hoffmann disease	Finding site	Motor neuron	false	Inferred relationship	Some
Werdnig-Hoffmann disease	Is a	Anterior horn cell disease (disorder)	true	Inferred relationship	Some
Werdnig-Hoffmann disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Werdnig-Hoffmann disease	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Werdnig-Hoffmann disease	Is a	Autosomal recessive hereditary motor neuron disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
107017013	Werdnig-Hoffmann disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
107018015	Infantile spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107019011	Progressive muscular atrophy of infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
199235017	Spinal muscular atrophy, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
803770017	Werdnig-Hoffmann disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232557016	Spinal muscular atrophy type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232558014	WHD - Werdnig-Hoffmann disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13891000146114	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)
13911000146112	ziekte van Werdnig-Hoffman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
938591000146119	spinale spieratrofie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1892061000146118	SMA type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)