syndroom van FRAXF
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene.
|DHD Diagnosis thesaurus reference set|
|RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set|
|SNOMED CT to Orphanet simple map||100974|
|SNOMED CT to ICD-10 extended map|
|Correlation||SNOMED CT source code to target map code correlation not specified|