| auto-immuun lymfoproliferatief syndroom met recidiverende virale infectie (aandoening) | | auto-immuun lymfoproliferatief syndroom met recidiverende virale infectie | | ALPS met recidiverende virale infectieziekte
CEDS
caspase 8-deficiëntiesyndroom
| | Autoimmune lymphoproliferative syndrome with recurrent viral infection | | Caspase 8 deficiency syndrome
| | A rare genetic disorder with characteristics of lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Prevalence of this disorder is not known. It is extremely rare with four individuals in one family identified to date. Development is reported to be normal in affected patients. Clinical signs include lymphadenopathy and splenomegaly, and development of recurrent sinopulmonary and significant mucocutaneous infections with the Herpes zoster and Herpes simplex viruses. The disorder is caused by germline homozygous mutations in the CASP8 gene (2q33-q34) involved in the execution phase of cell apoptosis. Carriers with a normal copy of the gene are asymptomatic. Biologically this syndrome has manifestations of slightly elevated double-negative T cells (DNTs) and defective Fas-mediated apoptosis of B, T, and NK lymphocytes. The pattern of inheritance appears to be autosomal recessive. |
| | Id | 722290008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D47.9 | | Term | Neoplasma met onzeker of onbekend gedrag van lymfoïd, hematopoëtisch en verwant weefsel, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 275517 |
| SNOMED CT to ICD-10 extended map | | Target | D47.9 | | Rule | TRUE | | Advice | ALWAYS D47.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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