| hereditaire sensorische en autonome neuropathie type 8 (aandoening) | | hereditaire sensorische en autonome neuropathie type 8 | | erfelijke sensorische en autonome neuropathie type 8
HSAN 8
| | Hereditary sensory and autonomic neuropathy type 8 | | HSAN8 - hereditary sensory and autonomic neuropathy type 8
Hereditary sensory and autonomic neuropathy type VIII
| | A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration and proprioception are normal. |
| | Id | 1172838005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 478664 |
| SNOMED CT to ICD-10 extended map | | Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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