Preferred Label : Hereditary sensory and autonomic neuropathy type IIB;
ICD-11 definition : HSAN Type IIB is an autosoma recessive disorder due to mutations in the FAM134B gene.
It presewnts in childhood with severe loss of pain and temperature sensations, ulcero-mutilations
and autonomic dysfunction;
ICD-11 synonym : HSAN2B - [Hereditary sensory autonomic neuropathy type 2B]; Hereditary sensory autonomic neuropathy type 2B;
ICD-11 acronym : HSAN2B;
Origin ID : 1850246922;
Currated CISMeF NLP mapping
HSAN Type IIB is an autosoma recessive disorder due to mutations in the FAM134B gene.
It presewnts in childhood with severe loss of pain and temperature sensations, ulcero-mutilations
and autonomic dysfunction
