| immunodeficiëntie door ficoline-3-deficiëntie (aandoening) | | immunodeficiëntie door ficoline-3-deficiëntie | | immunodeficiëntie door FCN-3-deficiëntie
| | Immunodeficiency due to ficolin 3 deficiency | | Immunodeficiency due to ficolin-3 deficiency
| | A rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36. |
| | Id | 766705006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D84.1 | | Term | Stoornissen in complementsysteem |
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| SNOMED CT to Orphanet simple map | 331190 |
| SNOMED CT to ICD-10 extended map | | Target | D84.1 | | Rule | TRUE | | Advice | ALWAYS D84.1 | 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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