732931006: Autosomal recessive limb girdle muscular dystrophy type 2R (disorder)

Status: retired, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3467549016	Autosomal recessive limb girdle muscular dystrophy type 2R (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3467550016	Autosomal recessive limb girdle muscular dystrophy type 2R	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3467551017	Autosomal recessive limb girdle muscular dystrophy due to desmin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3467552012	A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set

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