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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
1231128013 SMA - Spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
316021000172118 amyotrophie spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3391989019 atrophie de la musculature du rachis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
387431000241119 atrophie musculaire spinale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
496351000172115 atrophie musculaire spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
790650015 Spinal muscular atrophy (disorder) en Fully specified name Active Entire term 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


26 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
atrophie musculaire spinale (trouble) localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 1
atrophie musculaire spinale (trouble) est un(e) (attribut) Hereditary motor neuron disease (disorder) true Inferred relationship Some
atrophie musculaire spinale (trouble) est un(e) (attribut) Disorder primarily affecting the motor pathways (disorder) false Inferred relationship Some
atrophie musculaire spinale (trouble) est un(e) (attribut) Lower motor neuron disease true Inferred relationship Some
atrophie musculaire spinale (trouble) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
atrophie musculaire spinale (trouble) localisation d'une constatation (attribut) Motor neuron false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Lower motor neuron syndrome with late-adult onset (disorder) est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Autosomal dominant adult-onset proximal spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Spinal muscular atrophy, type II est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
maladie de Kugelberg-Welander (trouble) est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Werdnig-Hoffmann disease est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Adult spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Unspecified spinal muscular atrophy est un(e) (attribut) False atrophie musculaire spinale (trouble) Inferred relationship Some
Spinal muscular atrophy NOS est un(e) (attribut) False atrophie musculaire spinale (trouble) Inferred relationship Some
[X]Other inherited spinal muscular atrophy est un(e) (attribut) False atrophie musculaire spinale (trouble) Inferred relationship Some
[X]Other spinal muscular atrophies and related syndromes est un(e) (attribut) False atrophie musculaire spinale (trouble) Inferred relationship Some
Progressive bulbar palsy of childhood est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Distal spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Scapuloperoneal spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Facioscapulohumeral spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Scapulohumeral spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Oculopharyngeal spinal muscular atrophy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Bulbospinal neuronopathy est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Hereditary canine spinal muscular atrophy est un(e) (attribut) False atrophie musculaire spinale (trouble) Inferred relationship Some
X-linked distal arthrogryposis multiplex congenita (disorder) est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome est un(e) (attribut) True atrophie musculaire spinale (trouble) Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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