| syndroom van B-celimmunodeficiëntie, afwijking van extremiteit en urogenitale malformatie (aandoening) | | syndroom van B-celimmunodeficiëntie, afwijking van extremiteit en urogenitale malformatie | | syndroom van B-celimmuundeficiëntie, anomalie van extremiteit en urogenitale misvorming
| | B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome | | Agammaglobulinemia due to TOP2B mutation
BILU syndrome
Hoffman syndrome due to TOP2B deficiency
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 mental retardation has also been described. |
| | Id | 1230295000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 567502 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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