familiaire geïsoleerde congenitale asplenie (aandoening)
familiaire geïsoleerde congenitale asplenie
Familial isolated congenital asplenia
A rare non-syndromic potentially life-threatening visceral malformation with the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. There is evidence this disorder is caused by heterozygous mutation in the RPSA gene on chromosome 3p21.
Associated morphologyafwezigheid
Finding sitestructuur van milt
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale misvormingen van milt
SNOMED CT to Orphanet simple map101351
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q89.0
CorrelationSNOMED CT source code to target map code correlation not specified