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64383006: Werdnig-Hoffmann disease (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\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\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\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\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	true	Inferred relationship	Some
Werdnig-Hoffmann disease	Associated morphology	Degeneration	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

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
467091000172113	maladie de Werdnig-Hoffmann	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
154621000172116	ziekte van Werdnig-Hoffmann	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
356011000172118	spinale spieratrofie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)