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congenitale geïsoleerde deficiëntie van adrenocorticotroop hormoon (aandoening)
congenitale geïsoleerde deficiëntie van adrenocorticotroop hormoon
congenitale geïsoleerde deficiëntie van corticotrofine
aangeboren geïsoleerde ACTH-deficiëntie
congenitale geïsoleerde deficiëntie van corticotropine
Congenital isolated adrenocorticotropic hormone deficiency
Congenital isolated ACTH (adrenocorticotropic hormone) deficiency
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.
Id1231283007
StatusPrimitive
SNOMED CT to Orphanet simple map199296
SNOMED CT to ICD-10 extended map
TargetE23.6
RuleTRUE
AdviceALWAYS E23.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified