Engelsk definition
Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200
Hypoadrenocorticism, Familial
Familjär hypoadrenokorticism
Svenska synonymer
X-bunden Addison sjukdom — Kongenital binjurebarkshyperplasi — Kongenital adrenal hyperplasi
Engelska synonymer
Familial Hypoadrenocorticism — Familial Hypoadrenocorticisms — Hypoadrenocorticisms, Familial — Complex Glycerol Kinase Deficiency — Xp21 Contiguous Gene Deletion Syndrome — X-linked Adrenal Hypoplasia — Adrenal Hypoplasia, X-linked — X linked Adrenal Hypoplasia — Familial X-linked Addison Disease — Familial X linked Addison Disease — Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism — Addison Disease, X-Linked — Addison Disease, X Linked — X-Linked Addison Disease — Cytomegalic Adrenocortical Hypoplasia — Cytomegalic Adrenocortical Hypoplasias — AHC with Isolated Gonadotropin Deficiency — X-linked Congenital Adrenal Hypoplasia — X linked Congenital Adrenal Hypoplasia — Adrenal Hypoplasia, Congenital — Congenital Adrenal Hypoplasia — Congenital Adrenal Hypoplasias — Hypoplasia, Congenital Adrenal