| syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie (aandoening) | | syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie | | FOXN1-deficiëntie
'winged helix'-deficiëntie
alymfoïde cysteuze thymusdysgenesie
| | Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome | | T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency
Pignata Guarino syndrome
Winged helix deficiency
Alymphoid cystic thymic dysgenesis
| | A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. |
| | Id | 720345008 | | 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 |
| Target | Q84.0 | | Term | Congenitale alopecia |
| Target | Q84.6 | | Term | Overige congenitale misvormingen van nagels |
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| SNOMED CT to Orphanet simple map | 169095 |
| 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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