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718212006: 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
3311522013 Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3311526011 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. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311527019 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. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. en Definition 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
3396911001000118 TMEM70-abhängige mitochondriale Enzephalokardiomyopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5478841000241114 encéphalocardiomyopathie mitochondriale due à la mutation de la protéine transmembranaire 70 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5478841000241114 encéphalocardiomyopathie mitochondriale due à la mutation de la protéine transmembranaire 70 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396911001000118 TMEM70-abhängige mitochondriale Enzephalokardiomyopathie 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
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Myocardial disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Neonatal cardiovascular disorder true Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
TMEM70 related mitochondrial encephalo-cardio-myopathy Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
TMEM70 related mitochondrial encephalo-cardio-myopathy Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
TMEM70 related mitochondrial encephalo-cardio-myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a Neonatal metabolic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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