Autosomal dominant hereditary disorder
Hereditary sensory and autonomic neuropathy
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Hereditary sensory and autonomic neuropathy type 7 (disorder)
Hereditary sensory and autonomic neuropathy type 7
HSAN7- hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type VII
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22.
hereditaire sensorische en autonome neuropathie type 7
erfelijke sensorische en autonome neuropathie type 7
HSAN type 7
Id783550006
StatusPrimitive
Finding siteNerve structure
Finding sitePeripheral nervous system structure
Finding siteAutonomic nervous system structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified