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syndroom van leukencefalopathie met metafysaire dyschondroplasie (aandoening)
syndroom van leukencefalopathie met metafysaire dyschondroplasie
leuko-encefalopathie-metafysaire chondrodysplasie-syndroom
leukencefalopathie-metafysaire dyschondroplasie-syndroom
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.
Id719405005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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