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:

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

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

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This concept is not in any reference sets