| autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C (aandoening) | | autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C | | autosomaal recessieve T-cel negatieve B-cel positieve SCID door CD45-deficiëntie
| | Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency | | Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency
| | A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. |
| | Id | 1229941002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 169157 |
| 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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