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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.
Id721074002
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map140941
SNOMED CT to ICD-10 extended map
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