ICD-11 code : 5A71.01;
Preferred Label : Congenital adrenal hyperplasia;
ICD-11 definition : Congenital adrenal hyperplasia (CAH) refers to a group of conditions associated with
either complete (classical form) or partial (non-classical) anomalies in the biosynthesis
of adrenal hormones. The condition is characterised 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 hyponatraemia, hyperkalaemia and acidosis associated with mineralocorticoid deficiency,
and hypoglycaemia associated with glucocorticoid deficiency) may be life-threatening
from the neonatal period onwards. Genital variations may be noted at birth in affected
females. Chronic hyperandrogenism may lead to accelerated growth during childhood,
but advanced bone maturation may lead to a deficit in final height. Adults tend to
be overweight and metabolic disturbances, bone anomalies and fertility problems may
also be present. Non-classical forms are associated with later onset, during the peri-
or postpubertal period, and manifest with signs of hyperandrogenism (acne, hirsutism,
menstrual problems and infertility).;
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 conditions associated with
either complete (classical form) or partial (non-classical) anomalies in the biosynthesis
of adrenal hormones. The condition is characterised 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 hyponatraemia, hyperkalaemia and acidosis associated with mineralocorticoid deficiency,
and hypoglycaemia associated with glucocorticoid deficiency) may be life-threatening
from the neonatal period onwards. Genital variations may be noted at birth in affected
females. Chronic hyperandrogenism may lead to accelerated growth during childhood,
but advanced bone maturation may lead to a deficit in final height. Adults tend to
be overweight and metabolic disturbances, bone anomalies and fertility problems may
also be present. Non-classical forms are associated with later onset, during the peri-
or postpubertal period, and manifest with signs of hyperandrogenism (acne, hirsutism,
menstrual problems and infertility).
