congenitale afwijking
fragiele-X-chromosoom
||
FRAXF-syndroom (aandoening)
FRAXF-syndroom
syndroom van FRAXF
FRAXF syndrome
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.
Id716708005
StatusPrimitive
Associated morphologychromosomale morfologie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.2
TermFragiele-X-chromosoom
SNOMED CT to Orphanet simple map100974
SNOMED CT to ICD-10 extended map
TargetQ99.2
RuleTRUE
AdviceALWAYS Q99.2
CorrelationSNOMED CT source code to target map code correlation not specified