Autosomal recessive muscular dystrophy with limb girdle distribution

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Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
	Autosomal recessive limb girdle muscular dystrophy type 2Y
	Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency Muscular dystrophy with progressive weakness, distal contracture and rigid spine Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency
	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.
	autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y
	spierdystrofie met progressieve zwakte, distale contracturen en rigide wervelkolom 'limb-girdle'-spierdystrofie door torsine-1A-interagerend proteïne 1-deficiëntie 'limb-girdle muscular dystrophy' door LAP1B-deficiëntie LGMD2Y autosomaal recessieve gordeldystrofie type 2Y

Id	725907002
Status	Primitive

Associated morphology	Dystrophy
Finding site	Skeletal muscle structure
Pathological process	Pathological developmental process

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.0
Rule	TRUE
Advice	ALWAYS G71.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified