Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	1197052008
Code System Concept Name	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
Code System Preferred Concept Name	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (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Superseded By Concept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	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare mitochondrial DNA depletion syndrome with characteristics of neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4694734012	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria	Active	Synonym	false	false
4694735013	Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria	Active	Synonym	false	false
4694736014	Mitochondrial encephalomyopathy aminoacidopathy syndrome	Active	Synonym	false	false
4694737017	mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria	Active	Synonym	false	false
4694738010	Booth Haworth Dilling syndrome	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) Methylmalonic acidemia (disorder) {42393006 , SNOMED-CT } Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) {765401006 , 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,