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230253001: Bulbospinal neuronopathy (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\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)\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

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	Degeneration	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records

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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
5664471000172110	neuronopathie spino-bulbaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
8977491000172119	amyotrophie bulbospinale liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9023211000172111	syndrome de Kennedy	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9023221000172118	atrophie musculaire spinale et bulbaire liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4806261000172113	bulbospinale neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4806271000172116	ziekte van Kennedy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4806281000172118	BSMA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4806291000172115	bulbospinale musculaire atrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)