763067000: amyotrophie spinale bénigne congénitale autosomique dominante (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\...
• \Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\Autosomal dominant congenital benign spinal muscular atrophy
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Lower motor neuron disease\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\Autosomal dominant congenital benign spinal muscular atrophy
• \affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\Autosomal dominant congenital benign spinal muscular atrophy
• \Congenital disease\Autosomal dominant congenital benign spinal muscular atrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637758012	Autosomal dominant congenital benign spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637759016	Autosomal dominant congenital benign spinal muscular atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637760014	Autosomal dominant benign distal spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637761013	Congenital benign spinal muscular atrophy with contracture	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637762018	Congenital nonprogressive spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
765491000241113	amyotrophie spinale bénigne congénitale autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
901481000172112	amyotrophie spinale bénigne congénitale avec contractures	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
964061000172112	amyotrophie spinale bénigne congénitale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3637763011	A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start