773492007: Childhood-onset spasticity with hyperglycinemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Childhood-onset spasticity with hyperglycinemia

\General finding of soft tissue\Spasticity\Childhood-onset spasticity with hyperglycinemia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia

\Muscle finding\Finding of muscle tone\Increased muscle tone\Spasticity\Childhood-onset spasticity with hyperglycinemia
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia

\Musculoskeletal finding\Spasticity\Childhood-onset spasticity with hyperglycinemia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia
\Disease\Metabolic disease\Chronic metabolic disorder\Childhood-onset spasticity with hyperglycinemia
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinemia\Non-ketotic hyperglycinemia\Childhood-onset spasticity with hyperglycinemia
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinemia\Childhood-onset spasticity with hyperglycinemia
\Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinemia\Childhood-onset spasticity with hyperglycinemia
\Disease\Chronic disease\Chronic metabolic disorder\Childhood-onset spasticity with hyperglycinemia
\Disease\Chronic disease\Chronic nervous system disorder\Childhood-onset spasticity with hyperglycinemia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Childhood-onset spasticity with hyperglycinemia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Childhood-onset spasticity with hyperglycinemia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3723701016 Childhood-onset spasticity with hyperglycinemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3723702011 Childhood-onset spasticity with hyperglycinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

3723703018 Childhood-onset spasticity with hyperglycinemia en Synonym Active Entire term case insensitive SNOMED CT core module

3723704012 Childhood-onset spasticity with variant non-ketotic hyperglycinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

3723705013 Spasticity, ataxia, gait anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3723706014 Childhood-onset spasticity with variant non-ketotic hyperglycinemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723701016	Childhood-onset spasticity with hyperglycinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3723702011	Childhood-onset spasticity with hyperglycinaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3723703018	Childhood-onset spasticity with hyperglycinemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3723704012	Childhood-onset spasticity with variant non-ketotic hyperglycinaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3723705013	Spasticity, ataxia, gait anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3723706014	Childhood-onset spasticity with variant non-ketotic hyperglycinemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module