syndroom van radiosensibiliteit, immunodeficiëntie, dysmorfe kenmerken en leerproblemen (aandoening) | | syndroom van radiosensibiliteit, immunodeficiëntie, dysmorfe kenmerken en leerproblemen | | syndroom van radiosensitiviteit, immunodeficiëntie, dysmorfe kenmerken en leerproblemen RNF168-deficiëntie RIDDLE-syndroom
| | RIDDLE syndrome | | RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome RNF168 (ring finger protein 168) deficiency Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
| | A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE). |
| Id | 783099001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | D82.8 | Term | Immunodeficiëntie samengaand met andere gespecificeerde belangrijke defecten |
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SNOMED CT to Orphanet simple map | 420741 |
SNOMED CT to ICD-10 extended map | Target | D82.8 | Rule | TRUE | Advice | ALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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