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5262007: Spinal muscular atrophy (disorder)

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
9822014 Spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790650015 Spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231128013 SMA - Spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5372774010 Progressive spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
9822014 Spinal muscular atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
9822014 Spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790650015 Spinal muscular atrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
790650015 Spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231128013 SMA - Spinal muscular atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231128013 SMA - Spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5372774010 Progressive spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
883981000195119 Spinale Muskelatrophie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441381001000117 Spinale Muskelatrophie, proximale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391989019 atrophie de la musculature du rachis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
316021000172118 amyotrophie spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
496351000172115 atrophie musculaire spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391989019 atrophie de la musculature du rachis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
316021000172118 amyotrophie spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
496351000172115 atrophie musculaire spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883981000195119 Spinale Muskelatrophie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441381001000117 Spinale Muskelatrophie, proximale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

26 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinal muscular atrophy Is a Hereditary motor neuron disease true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy Is a Disorders primarily affecting the motor pathways false Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy Is a Lower motor neuron disease true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinal muscular atrophy Finding site Motor neuron (cell) false Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive bulbar palsy of childhood Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal spinal muscular atrophy (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Scapuloperoneal spinal muscular atrophy (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Facioscapulohumeral spinal muscular atrophy Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Scapulohumeral spinal muscular atrophy (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngeal spinal muscular atrophy Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Bulbospinal neuronopathy Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary canine spinal muscular atrophy Is a False Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, type II (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Kugelberg-Welander disease Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Werdnig-Hoffmann disease Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Adult spinal muscular atrophy Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Unspecified spinal muscular atrophy Is a False Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy NOS Is a False Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other inherited spinal muscular atrophy Is a False Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other spinal muscular atrophies and related syndromes Is a False Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal arthrogryposis multiplex congenita (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
Lower motor neuron syndrome with late-adult onset (disorder) Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Is a True Spinal muscular atrophy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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