||||||
'VPS11 core subunit of CORVET and HOPS complexes'-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie (aandoening)
VPS11-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie
VPS11-gerelateerde autosomaal recessieve hypomyeliniserende leuko-encefalopathie
'VPS11 core subunit of CORVET and HOPS complexes'-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie
VPS11-related autosomal recessive hypomyelinating leukodystrophy
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.
Id1187249005
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map466934
SNOMED CT to ICD-10 extended map
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified