hereditaire motorische en sensorische neuropathie met acrodystrofie (aandoening) | | hereditaire motorische en sensorische neuropathie met acrodystrofie | | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 met acrodystrofie
| | Hereditary motor and sensory neuropathy with acrodystrophy | | Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
| | A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. |
| Id | 771144005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G60.0 | Term | Hereditaire motorische en sensorische neuropathie |
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SNOMED CT to Orphanet simple map | 90119 |
SNOMED CT to ICD-10 extended map | Target | G60.0 | Rule | TRUE | Advice | ALWAYS G60.0 | 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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