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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
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
Id719405005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
SNOMED CT to Orphanet simple map83629
SNOMED CT to ICD-10 extended map
TargetG37.8
RuleTRUE
AdviceALWAYS G37.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified