778029000: FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

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

3737331019 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3737332014 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy en Synonym Active Entire term case sensitive SNOMED CT core module

3737333016 FASTKD2-related infantile mitochondrial encephalomyopathy en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3737331019	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3737332014	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3737333016	FASTKD2-related infantile mitochondrial encephalomyopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module