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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.
Id771144005
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map90119
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified