Code System Concept

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Code System Concept

Code System Concept Code	1186718008
Code System Concept Name	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)
Code System Preferred Concept Name	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress 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Superseded By Concept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	09/01/2022
SDO Date Created	11/30/2021
SDO Date Revised	11/30/2021
Description	A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4667424016	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome	Active	Synonym	false	false
4667425015	Coenzyme Q4-related neonatal encephalomyopathy	Active	Synonym	false	false
4667426019	COQ4-related neonatal encephalomyopathy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Central nervous system complication (disorder) {87536007 , SNOMED-CT } Coenzyme Q10 deficiency (disorder) {724575009 , SNOMED-CT } Disorder of nerve due to metabolic disease (disorder) {1153623003 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hypertrophic mitochondrial cardiomyopathy (disorder) {472316006 , SNOMED-CT } Mitochondrial encephalomyopathy (disorder) {447292006 , SNOMED-CT } Neonatal cardiovascular disorder (disorder) {363696006 , SNOMED-CT } Neonatal metabolic disorder (disorder) {736652002 , 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,