|syndroom van agammaglobulinemie, microcefalie, craniosynostose en ernstige dermatitis (aandoening)|
syndroom van agammaglobulinemie, microcefalie, craniosynostose en ernstige dermatitis
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|