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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
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
2121111000172117 encéphalocardiomyopathie mitochondriale associée à TMEM70 (transmembrane protein 70) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2121121000172110 encéphalocardiomyopathie mitochondriale par déficit isolé en ATP synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2121131000172113 encéphalocardiomyopathie mitochondriale par déficit isolé en complexe V de la chaîne respiratoire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2121141000172118 encéphalocardiomyopathie mitochondriale due à la mutation de la protéine transmembranaire 70 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2121161000172119 encéphalocardio myopathie mitochondriale par déficit en F1Fo ATPase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2121151000172116 mitochondriale encefalocardiomyopathie door transmembraanproteïne-70-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

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 (body 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

Belgian subset for neonatology in patient health records

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