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230253001: bulbospinale neuropathie (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\Spinal muscular atrophy\Bulbospinal neuronopathy

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Bulbospinal neuronopathy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Bulbospinal neuronopathy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Bulbospinal neuronopathy
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Bulbospinal neuronopathy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Bulbospinal neuronopathy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Bulbospinal neuronopathy

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Bulbospinal neuronopathy

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
Bulbospinal neuronopathy	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Bulbospinal neuronopathy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Bulbospinal neuronopathy	Finding site	Motor neuron	false	Inferred relationship	Some
Bulbospinal neuronopathy	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Bulbospinal neuronopathy	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Bulbospinal neuronopathy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Bulbospinal neuronopathy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
345067019	Bulbospinal neuronopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
345068012	Kennedy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345069016	X-linked bulbospinal atrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345070015	Bulbospinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618035018	Bulbospinal neuronopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11681000146110	ziekte van Kennedy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11691000146112	bulbospinale neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
98821000146115	bulbospinale musculaire atrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2184611000146112	BSMA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2184621000146119	bulbospinale neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)