complexe autosomaal dominante hereditaire spastische paraplegie
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syndroom van spastische paraplegie, neuropathie en poikilodermie (aandoening)
syndroom van spastische paraplegie, neuropathie en poikilodermie
Spastic paraplegia, neuropathy, poikiloderma syndrome
Antinolo Nieto Borrego syndrome
A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Id763402002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Clinical courseprogressief
InterpretsMovement
Finding sitestructuur van rechter onderste extremiteit
Finding sitestructuur van linker onderste extremiteit
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG82.1
TermHypertone paraplegie
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathieën
TargetL81.8
TermOverige gespecificeerde pigmentatiestoornissen
SNOMED CT to Orphanet simple map2821
SNOMED CT to ICD-10 extended map
TargetG82.1
RuleTRUE
AdviceALWAYS G82.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetL81.8
RuleTRUE
AdviceALWAYS L81.8
CorrelationSNOMED CT source code to target map code correlation not specified