773492007: Childhood-onset spasticity with hyperglycinemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Childhood-onset spasticity with hyperglycinaemia
• \General finding of soft tissue\Spasticity\Childhood-onset spasticity with hyperglycinaemia
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Muscle finding\Muscle tone - finding\Hypertonia\Spasticity\Childhood-onset spasticity with hyperglycinaemia
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Musculoskeletal finding\Spasticity\Childhood-onset spasticity with hyperglycinaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Metabolic disease\Chronic metabolic disorder\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Chronic disease\Chronic metabolic disorder\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Chronic disease\Chronic nervous system disorder\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinaemia
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinaemia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723701016	Childhood-onset spasticity with hyperglycinemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723702011	Childhood-onset spasticity with hyperglycinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3723703018	Childhood-onset spasticity with hyperglycinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3723704012	Childhood-onset spasticity with variant non-ketotic hyperglycinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3723705013	Spasticity, ataxia, gait anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723706014	Childhood-onset spasticity with variant non-ketotic hyperglycinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3723707017	A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	en	Definition	Active	Case sensitive	SNOMED CT core
3723708010	A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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