Code System Concept

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Code System Concept

Code System Concept Code	718212006
Code System Concept Name	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
Code System Preferred Concept Name	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3311523015	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Active	Synonym	false	false
3311525010	TMEM70 related mitochondrial encephalo-cardio-myopathy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Mitochondrial myopathy (disorder) {16851005 , SNOMED-CT } Myocardial disease (disorder) {57809008 , SNOMED-CT } Neonatal cardiovascular disorder (disorder) {363696006 , SNOMED-CT } Neonatal metabolic disorder (disorder) {736652002 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,