Congenital malformation
Developmental hereditary disorder
Fragile X chromosome
Intellectual disability
X-linked recessive hereditary disease
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FRAXE intellectual disability syndrome (disorder)
FRAXE intellectual disability syndrome
Intellectual disability associated with fragile site FRAXE
FRAXE is a form of nonsyndromic X-linked mental retardation with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28).
syndroom van FRAXE en verstandelijke beperking
FRAXE-syndroom en verstandelijke handicap
syndroom van FRAXE en mentale retardatie
Id716709002
StatusPrimitive
Associated morphologyChromosomal morphology
Finding siteSex chromosome X
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ99.2
RuleTRUE
AdviceALWAYS Q99.2
CorrelationSNOMED CT source code to target map code correlation not specified