|syndroom van faciale dysmorfie, immunodeficiëntie, livedo en kleine gestalte (aandoening)|
syndroom van faciale dysmorfie, immunodeficiëntie, livedo en kleine gestalte
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|