loading...| Preferred Name |
先天性肾上腺增生 / Congenital adrenal hyperplasia |
| Definitions |
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. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5A71.01 |
| 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. |
| hasDbXref | |
| label |
先天性肾上腺增生 / Congenital adrenal hyperplasia |
| mappingRelation | |
| notation |
5A71.01 |
| prefixIRI |
ICD11CN:A71.01 |
| prefLabel |
先天性肾上腺增生 / Congenital adrenal hyperplasia |
| subClassOf |