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kleine gestalte door primaire zuurlabiele subunitdeficiëntie (aandoening)
kleine gestalte door primaire zuurlabiele subunitdeficiëntie
kleine gestalte door primaire 'acid-labile subunit'-deficiëntie
Short stature due to primary acid labile subunit deficiency
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.
Id721074002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified