Code System Concept

Code System Concept

Code System Concept Code	240084007
Code System Concept Name	Congenital myopathy with fiber type disproportion (disorder)
Code System Preferred Concept Name	Congenital myopathy with fiber type disproportion (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibers. Type 1 muscle fibers are predominant compared to type 2 fibers, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
359688010	Congenital myopathy with fibre type disproportion	Active	Synonym	false	false
359689019	Congenital myopathy with fiber type disproportion	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Other Relationships

No other relationships present.

Child Concepts

Congenital myopathy with fiber type disproportion (disorder) {240084007 , SNOMED-CT }

Parent/Child (Relationship Type)