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xeroderma pigmentosum-syndroom van Cockayne-complex (aandoening)
xeroderma pigmentosum-syndroom van Cockayne-complex
complex van xeroderma pigmentosum en syndroom van Cockayne
Xeroderma pigmentosum and Cockayne syndrome complex
Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive.
Id719819004
StatusPrimitive
Has interpretationafwijkend
Interpretskeratinisatie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.1
RuleTRUE
AdviceALWAYS Q82.1
CorrelationSNOMED CT source code to target map code correlation not specified