718212006: Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

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

\Finding of brain\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Disorder of head\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Finding of neonate\Neonatal disorder\...

\Neonatal metabolic disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Neonatal cardiovascular disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Cardiovascular finding\Disorder of cardiovascular system\Neonatal cardiovascular disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

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

\Hereditary disorder of musculoskeletal system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal cardiovascular disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system\Neonatal cardiovascular disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Metabolic disease\Neonatal metabolic disorder\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3311522013 Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3311523015 Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation en Synonym Active Entire term case insensitive SNOMED CT core module

3311525010 TMEM70 related mitochondrial encephalo-cardio-myopathy en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Mitochondrial myopathy	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Myocardial disease	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Disorder of brain	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Neonatal cardiovascular disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	2
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Finding site	Myocardium structure	true	Inferred relationship	Existential restriction modifier	4
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	Neonatal metabolic disorder	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
3311522013	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3311523015	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3311525010	TMEM70 related mitochondrial encephalo-cardio-myopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module