64383006: Werdnig-Hoffmann disease (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Werdnig-Hoffmann disease

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Anterior horn cell disease (disorder)\Werdnig-Hoffmann disease
\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Werdnig-Hoffmann disease
\Disorder of body system\Disease 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	Existential restriction modifier (core metadata concept)
Werdnig-Hoffmann disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Werdnig-Hoffmann disease	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Werdnig-Hoffmann disease	Finding site	Motor neuron (cell)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Werdnig-Hoffmann disease	Is a	Anterior horn cell disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Werdnig-Hoffmann disease	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Werdnig-Hoffmann disease	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
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
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	Only initial character case insensitive (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	Only initial character 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	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	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
3446211001000114	Spinale Muskelatrophie, proximale, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
467091000172113	maladie de Werdnig-Hoffmann	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
467091000172113	maladie de Werdnig-Hoffmann	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446211001000114	Spinale Muskelatrophie, proximale, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module