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syndroom van retinopathie, anemie en afwijkingen van centraal zenuwstelsel (aandoening)
syndroom van Revesz
dyskeratosis congenita met bilaterale exsudatieve retinopathie
syndroom van retinopathie, anemie en afwijkingen van centraal zenuwstelsel
Revesz syndrome
Retinopathy, anemia, central nervous system anomalies syndrome
Dyskeratosis congenita with bilateral exudative retinopathy
Revesz DeBuse syndrome
A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications.
Id723512008
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydyskeratose
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretshemostase
Pathological processafwijkend immuunproces
Has interpretationonder referentiebereik
InterpretsPlatelet count
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.0
RuleTRUE
AdviceALWAYS H35.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD61.9
RuleTRUE
AdviceALWAYS D61.9
CorrelationSNOMED CT source code to target map code correlation not specified