| syndroom van ernstige gecombineerde immunodeficiëntie, microcefalie, groeiachterstand en gevoeligheid voor ioniserende straling (aandoening) | | syndroom van ernstige gecombineerde immunodeficiëntie, microcefalie, groeiachterstand en gevoeligheid voor ioniserende straling | | cernunnos-XLF-deficiëntie
| | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | | NHEJ1 (non-homologous end joining factor) syndrome
Severe combined immunodeficiency due to Cernunnos protein deficiency
Cernunnos-XLF deficiency
| | A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. |
| | Id | 720853005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D81.1 | | Term | 'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen |
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| SNOMED CT to Orphanet simple map | 169079 |
| SNOMED CT to ICD-10 extended map | | Target | D81.1 | | Rule | TRUE | | Advice | ALWAYS D81.1 | 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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