| pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie (aandoening) | | pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie | | OAS1-gerelateerde infantiele PAP en hypogammaglobulinemie
OAS1-deficiëntie
OAS1-gerelateerde pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie
| | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia
OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia
| | A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. |
| | Id | 1197476009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 572428 |
| SNOMED CT to ICD-10 extended map | | Target | J84.0 | | Rule | TRUE | | Advice | ALWAYS J84.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
