Autosomal dominant hereditary disorder	Autosomal dominant hereditary spinal muscular atrophy	Chronic nervous system disorder	Spinal muscular atrophy
\|	\|	\|	\|

Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
	Autosomal dominant adult-onset proximal spinal muscular atrophy
	Finkel disease Autosomal dominant late-onset spinal muscular atrophy Finkel type SMAFK - spinal muscular atrophy Finkel type
	A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13.
	autosomaal dominante proximale spinale spieratrofie beginnend op volwassen leeftijd
	autosomaal dominante PSMA beginnend op volwassen leeftijd autosomaal dominante proximale spinale musculaire atrofie beginnend op volwassen leeftijd

Id	784391002
Status	Primitive

Finding site	Structure of nervous system
Occurrence	Adulthood

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G12.1
Rule	TRUE
Advice	ALWAYS G12.1
Correlation	SNOMED CT source code to target map code correlation not specified