|||
X-linked acrogigantism due to Xq26 microduplication (disorder)
X-linked acrogigantism due to Xq26 microduplication
X-LAG (X-linked acrogigantism) due Xq26 microduplication
Chromosome Xq26 microduplication syndrome
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.
Id789187001
StatusPrimitive
Has interpretationverhoogd
InterpretsHormone production
Associated morphologypartiƫle trisomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE22.0
RuleTRUE
AdviceALWAYS E22.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified