ICD-11 code : 5A71.01;
Preferred Label : Congenital adrenal hyperplasia;
ICD-11 definition : Congenital adrenal hyperplasia (CAH) refers to a group of diseases associated with
either complete (classical form) or partial (non-classical) anomalies in the biosynthesis
of adrenal hormones. The disease is characterized by insufficient production of cortisol,
or of aldosterone (classical form with salt wasting), associated with overproduction
of adrenal androgens. In the classical form, metabolic decompensation (dehydration
with hyponatremia, hyperkalemia and acidosis associated with mineralocorticoid deficiency,
and hypoglycemia associated with glucocorticoid deficiency) may be life-threatening
from the neonatal period onwards. Genital anomalies may be noted at birth in affected
females.;
ICD-11 synonym : congenital hyperadrenocorticism; congenital adrenogenital syndrome; congenital female adrenal pseudohermaphroditism; congenital adrenal gland hyperplasia; congenital adrenogenitalism; Congenital adrenogenital disorders associated with enzyme deficiency; congenital adrenal cortical hyperplasia;
Origin ID : 172733763;
UMLS CUI : C0001627;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Congenital adrenal hyperplasia (CAH) refers to a group of diseases associated with
either complete (classical form) or partial (non-classical) anomalies in the biosynthesis
of adrenal hormones. The disease is characterized by insufficient production of cortisol,
or of aldosterone (classical form with salt wasting), associated with overproduction
of adrenal androgens. In the classical form, metabolic decompensation (dehydration
with hyponatremia, hyperkalemia and acidosis associated with mineralocorticoid deficiency,
and hypoglycemia associated with glucocorticoid deficiency) may be life-threatening
from the neonatal period onwards. Genital anomalies may be noted at birth in affected
females.
