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hereditaire sensorische en autonome neuropathie door 'tectonin beta-propeller repeat containing 2'-mutatie (aandoening)
hereditaire sensorische en autonome neuropathie door 'tectonin beta-propeller repeat containing 2'-mutatie
erfelijke sensorische en autonome neuropathie door TECPR2-mutatie
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation
Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation
Autosomal recessive spastic paraplegia type 49
A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32.
Id783198006
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified