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 ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. |
| Id | 1231283007 | Status | Primitive |
SNOMED CT to Orphanet simple map | 199296 |
SNOMED CT to ICD-10 extended map | Target | E23.6 | Rule | TRUE | Advice | ALWAYS E23.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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