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230247001: Distal spinal muscular atrophy (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy
\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy
\Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy
\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345060017 Distal spinal muscular atrophy en Synonym Active Case insensitive SNOMED CT core

618029018 Distal spinal muscular atrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal spinal muscular atrophy	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Distal spinal muscular atrophy	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Distal spinal muscular atrophy	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Distal spinal muscular atrophy	Finding site	Motor neuron	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Young adult-onset distal hereditary motor neuropathy	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal recessive distal spinal muscular atrophy type 3	Is a	False	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy type 1	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 2	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Distal hereditary motor neuropathy type 7	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some
Autosomal recessive lower motor neuron disease with childhood onset	Is a	True	Distal spinal muscular atrophy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345060017	Distal spinal muscular atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
618029018	Distal spinal muscular atrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core