Preferred Label : Hereditary sensory and autonomic neuropathy type IIA;
ICD-11 definition : HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene.
It presents in early childhood or congenitally with severe distal sensory loss to
touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.;
ICD-11 synonym : Hereditary sensory autonomic neuropathy type 2A; HSAN2A - [Hereditary sensory autonomic neuropathy type 2A];
ICD-11 acronym : HSAN2A;
Origin ID : 2050984064;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene.
It presents in early childhood or congenitally with severe distal sensory loss to
touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.
