772129007: Autosomal dominant childhood-onset proximal 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\Spinal muscular atrophy with lower extremity predominance
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spinal muscular atrophy with lower extremity predominance
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with lower extremity predominance
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with lower extremity predominance
• \Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with lower extremity predominance
• \Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with lower extremity predominance

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3717158014	Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3717159018	Autosomal dominant childhood-onset proximal spinal muscular atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3717160011	Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3717161010	SMALED - spinal muscular atrophy, lower extremity, dominant	en	Synonym	Active	Case sensitive	SNOMED CT core
3717162015	Spinal muscular atrophy with lower extremity predominance	en	Synonym	Active	Case insensitive	SNOMED CT core
3716698015	Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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