Code System Concept

Code System Concept

Code System Concept Code	765401006
Code System Concept Name	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)
Code System Preferred Concept Name	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3658343014	Mitochondrial DNA depletion syndrome encephalomyopathic form	Active	Synonym	false	false
3658344015	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Other Relationships

No other relationships present.

Child Concepts

Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) {765401006 , SNOMED-CT }

Parent/Child (Relationship Type)