| T-cel-immuundeficiëntie met epidermodysplasia verruciformis (aandoening) | | T-cel-immuundeficiëntie met epidermodysplasia verruciformis | | T-cel-immunodeficiëntie door RHOH-deficiëntie
| | T-cell immunodeficiency with epidermodysplasia verruciformis | | T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency due to ras homolog family member H deficiency
T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency
| | A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. |
| | Id | 770785002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 324294 |
| SNOMED CT to ICD-10 extended map | | Target | D84.8 | | Rule | TRUE | | Advice | ALWAYS D84.8 | 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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