Code System Concept

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Code System Concept

Code System Concept Code	1255274002
Code System Concept Name	Congenital myopathy with reduced type 2 muscle fibers (disorder)
Code System Preferred Concept Name	Congenital myopathy with reduced type 2 muscle fibers (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Superseded By Concept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	03/01/2023
SDO Date Created	10/31/2022
SDO Date Revised	10/31/2022
Description	A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5145808016	Congenital myopathy with reduced type II muscle fibres	Active	Synonym	false	false
5145809012	Congenital myopathy with type 2 muscle fibre atrophy	Active	Synonym	false	false
5145810019	Congenital myopathy with type II fiber atrophy	Active	Synonym	false	false
5145811015	Congenital myopathy with reduced type II muscle fibers	Active	Synonym	false	false
5145812010	Congenital myopathy with fast-twitch fiber atrophy	Active	Synonym	false	false
5145813017	Congenital myopathy with fast-twitch fibre atrophy	Active	Synonym	false	false
5145814011	Congenital myopathy with reduced type 2 muscle fibers	Active	Synonym	false	false
5145815012	Congenital myopathy with type II fibre atrophy	Active	Synonym	false	false
5145817016	Congenital myopathy with reduced type 2 muscle fibres	Active	Synonym	false	false
5145818014	Congenital myopathy with type 2 muscle fiber atrophy	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) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Myopathy with abnormality of histochemical fiber type (disorder) {240082006 , 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,