| 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 type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein. |
| | 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 |
| Target | Q84.0 | | Rule | TRUE | | Advice | ALWAYS Q84.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q84.6 | | Rule | TRUE | | Advice | ALWAYS Q84.6 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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