| congenitale pijnongevoeligheid, anosmie en artropathie bij aandoening van zenuwstelsel (aandoening) | | congenitale pijnongevoeligheid, anosmie en artropathie bij aandoening van zenuwstelsel | | congenitale ongevoeligheid voor pijn, anosmie en neuropathische artropathie
| | Congenital insensitivity to pain, anosmia, neuropathic arthropathy | | Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain
SCN9A-related congenital insensitivity to pain
| | A rare genetic peripheral neuropathy with characteristics of complete congenital insensitivity to painful stimuli commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Caused by homozygous or compound heterozygous mutations in the SCN9A gene on chromosome 2q24. |
| | Id | 1279831004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 88642 |
| 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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