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familiair infantiel gigantisme (aandoening)
familiair infantiel gigantisme
erfelijke infantiele reuzengroei
infantiel gigantisme door hypofysehyperplasie
Familial infantile gigantism
Hereditary infantile gigantism
Infantile gigantism due to pituitary hyperplasia
A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example 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.
Id773645004
StatusPrimitive
Has interpretationverhoogd
Interpretshormoonproductie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE22.0
TermAcromegalie en hypofysair gigantisme
SNOMED CT to Orphanet simple map300373
SNOMED CT to ICD-10 extended map
TargetE22.0
RuleTRUE
AdviceALWAYS E22.0
CorrelationSNOMED CT source code to target map code correlation not specified
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