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syndroom van gevoeligheid voor bestraling, immunodeficiëntie, dysmorfe kenmerken en leerproblemen (aandoening)
syndroom van gevoeligheid voor bestraling, immunodeficiëntie, dysmorfe kenmerken en leerproblemen
RNF168-deficiëntie
RIDDLE-syndroom
RIDDLE syndrome
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
RNF168 (ring finger protein 168) deficiency
A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
Id783099001
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD82.8
RuleTRUE
AdviceALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified