| ernstige gecombineerde immunodeficiëntie door coronine-1A-deficiëntie (aandoening) | | ernstige gecombineerde immunodeficiëntie door coronine-1A-deficiëntie | | SCID door CORO1A-deficiëntie
| | Severe combined immunodeficiency due to CORO1A deficiency | | Severe combined immunodeficiency due to coronin 1A deficiency
| | A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by caused by homozygous or compound heterozygous mutation in the CORO1A gene on chromosome 16p11. |
| | Id | 1229942009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 228003 |
| SNOMED CT to ICD-10 extended map | | Target | D81.2 | | Rule | TRUE | | Advice | ALWAYS D81.2 | 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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