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congenitaal syndroom van progressief beenmergfalen, B-celimmunodeficiƫntie en skeletdysplasie (aandoening)
congenitaal syndroom van progressief beenmergfalen, B-celimmunodeficiƫntie en skeletdysplasie
congenitaal syndroom van progressief beenmergfalen, B-celimmuundeficiƫntie 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.
Id1177173001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map508542
SNOMED CT to ICD-10 extended map
TargetD46.7
RuleTRUE
AdviceALWAYS D46.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified