| congenitaal syndroom van progressief beenmergfalen, B-celimmunodeficiëntie en skeletdysplasie (aandoening) | | congenitaal syndroom van progressief beenmergfalen, B-celimmunodeficiëntie en skeletdysplasie | | congenitaal syndroom van progressief beenmergfalen, B-celimmuundeficiëntie en skeletdysplasie
| | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome | | MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency
MYSM1 deficiency
| | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombocytopenia and myelodysplastic features. There are also non-hematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging. |
| | Id | 1177173001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 508542 |
| SNOMED CT to ICD-10 extended map | | Target | D46.7 | | Rule | TRUE | | Advice | ALWAYS D46.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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