Preferred Label : Immunodeficiency - centromeric region instability - facial anomalies syndrome;
ICD-11 definition : The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF)
is a rare autosomal recessive primary immune deficiency characterized by immunodeficiency,
although B cells are present, and by characteristic rearrangements in the vicinity
of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16
and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation,
failure to thrive, and psychomotor retardation.;
ICD-11 synonym : Centromeric instability immunodeficiency syndrome; Immunodeficiency - centromeric instability - facial anomalies;
Origin ID : 1446083793;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF)
is a rare autosomal recessive primary immune deficiency characterized by immunodeficiency,
although B cells are present, and by characteristic rearrangements in the vicinity
of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16
and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation,
failure to thrive, and psychomotor retardation.
