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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\...

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

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)

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

\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 (disorder)

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

\Finding of neonate\Neonatal disorder\...

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

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

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

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)

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

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

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

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

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

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 (core metadata concept) SNOMED CT core

3311523015 Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3311525010 TMEM70 related mitochondrial encephalo-cardio-myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401719016 Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401720010 Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Mitochondrial myopathy	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Myocardial disease	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Neonatal cardiovascular disorder	true	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Finding site	Myocardium structure	true	Inferred relationship	Some	4
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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 (core metadata concept)	SNOMED CT core
3311523015	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311525010	TMEM70 related mitochondrial encephalo-cardio-myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401719016	Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401720010	Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core