||||||
syndroom van B-celimmunodeficiƫntie, afwijking van extremiteit en urogenitale malformatie (aandoening)
syndroom van B-celimmunodeficiƫntie, afwijking van extremiteit en urogenitale malformatie
syndroom van B-celimmuundeficiƫntie, anomalie van extremiteit en urogenitale misvorming
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
BILU (B-cell immunodeficiency, limb, urogenital) syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi and micrognathia). Most patients are developmentally normal although moderate intellectual disability has also been described.
Id1230295000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map567502
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified