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773492007: Childhood-onset spasticity with hyperglycinemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3723702011 Childhood-onset spasticity with hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723703018 Childhood-onset spasticity with hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723704012 Childhood-onset spasticity with variant non-ketotic hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723705013 Spasticity, ataxia, gait anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723706014 Childhood-onset spasticity with variant non-ketotic hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3723701016 Childhood-onset spasticity with hyperglycinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723702011 Childhood-onset spasticity with hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723703018 Childhood-onset spasticity with hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723704012 Childhood-onset spasticity with variant non-ketotic hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723705013 Spasticity, ataxia, gait anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723706014 Childhood-onset spasticity with variant non-ketotic hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3434211001000118 Spastik mit Hyperglyzinämie, im Kindesalter beginnend de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927801000172117 spasticité de l'enfant avec une hyperglycinémie non cétosique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931971000172113 syndrome spasticité, ataxie, anomalies de la marche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927801000172117 spasticité de l'enfant avec une hyperglycinémie non cétosique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931971000172113 syndrome spasticité, ataxie, anomalies de la marche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434211001000118 Spastik mit Hyperglyzinämie, im Kindesalter beginnend de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Childhood-onset spasticity with hyperglycinemia (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Childhood-onset spasticity with hyperglycinemia (disorder) Interprets Muscle tone true Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Non-ketotic hyperglycinaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Spasticity false Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 2
Childhood-onset spasticity with hyperglycinemia (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 3
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Childhood-onset spasticity with hyperglycinemia (disorder) Is a Spastic ataxia (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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