congenital adrenal hyperplasia

Term ID

DOID:0050811

Synonyms

• adrenal hyperplasia 1
• congenital lipoid adrenal hyperplasia
• lipoid CAH

Definition

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. (3)

References

• GARD:1465
• GARD:1467
• ICD10CM:E25
• ICD9CM:255.2
• OMIM:201710
• OMIM:201810
• OMIM:201910
• OMIM:202010
• OMIM:202110
• ORDO:418
• SNOMEDCT_US_2023_03_01:154706003
• UMLS_CUI:C0701163

Ontology

Human Disease   ( DOID:0050811 )