ernstige gecombineerde immunodeficiëntie door deficiëntie van 'lymphocyte-specific protein-tyrosine kinase' (aandoening) | | ernstige gecombineerde immunodeficiëntie door deficiëntie van 'lymphocyte-specific protein-tyrosine kinase' | | ernstige gecombineerde immunodeficiëntie door LCK-deficiëntie
| | Severe combined immunodeficiency due to LCK deficiency | | Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
| | A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. |
| Id | 783617001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | D81.1 | Term | 'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen |
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SNOMED CT to Orphanet simple map | 280142 |
SNOMED CT to ICD-10 extended map | Target | D81.1 | Rule | TRUE | Advice | ALWAYS D81.1 | 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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