Code System Concept

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Code System Concept

Code System Concept Code	718713000
Code System Concept Name	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
Code System Preferred Concept Name	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3313308017	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 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 } Congenital anomaly of myocardium (disorder) {204394002 , SNOMED-CT } Congenital anomaly of skeletal muscle (disorder) {89886004 , SNOMED-CT } Congenital cardiovascular disorder (disorder) {762228008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hypertrophic mitochondrial cardiomyopathy (disorder) {472316006 , SNOMED-CT } Lactic acidosis (disorder) {91273001 , SNOMED-CT } Secondary myopathy (disorder) {60738003 , 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,