| gecombineerde immunodeficiëntie door deficiëntie van 'membrane-organizing extension spike protein' (aandoening) | | gecombineerde immunodeficiëntie door moesindeficiëntie | | MSN-gerelateerde gecombineerde immunodeficiëntie
X-gebonden immunodeficiëntie door moesindeficiëntie
gecombineerde immunodeficiëntie door deficiëntie van 'membrane-organizing extension spike protein'
| | Combined immunodeficiency due to moesin deficiency | | MSN (moesin) related combined immunodeficiency
X-linked moesin-associated immunodeficiency
| | A rare, combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. |
| | Id | 1179285006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 504530 |
| SNOMED CT to ICD-10 extended map | | Target | D81.8 | | Rule | TRUE | | Advice | ALWAYS D81.8 | 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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