Code System Concept

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Code System Concept

Code System Concept Code	725907002
Code System Concept Name	Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
Code System Preferred Concept Name	Autosomal recessive limb girdle muscular dystrophy type 2Y (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3446316014	Autosomal recessive limb girdle muscular dystrophy type 2Y	Active	Synonym	false	false
3446317017	Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency	Active	Synonym	false	false
3446318010	Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency	Active	Synonym	false	false
3446319019	Muscular dystrophy with progressive weakness, distal contracture and rigid spine	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) {240054004 , 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,