congenitale afwijking
fragiele-X-chromosoom
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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.
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