autosomaal dominante hereditaire aandoening
hereditaire sensorische en autonome neuropathie
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hereditaire sensorische en autonome neuropathie type 7 (aandoening)
hereditaire sensorische en autonome neuropathie type 7
erfelijke sensorische en autonome neuropathie type 7
HSAN type 7
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.
Id783550006
StatusPrimitive
Finding sitestructuur van zenuw
Finding sitestructuur van perifeer zenuwstelsel
Finding sitestructuur van autonoom zenuwstelsel
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathieën
SNOMED CT to Orphanet simple map391397
SNOMED CT to ICD-10 extended map
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