Preferred Label : Hypoadrenocorticism, Familial;
MeSH 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; Genetic or familial occurrence of ADDISONS DISEASE characterized by insufficient production
of cortisol, aldosterone, and/or other hormones made in the adrenal cortex.;
MeSH synonym : Familial Hypoadrenocorticism; Familial Hypoadrenocorticisms; Hypoadrenocorticisms, Familial;
DeCS synonym : Complex Glycerol Kinase Deficiency; X-linked Adrenal Hypoplasia; Xp21 Contiguous Gene Deletion Syndrome;
MeSH hyponym : 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; Xp21 Contiguous Gene Deletion Syndrome;
Origin ID : D000075262;
UMLS CUI : C1868690;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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
Genetic or familial occurrence of ADDISONS DISEASE characterized by insufficient production
of cortisol, aldosterone, and/or other hormones made in the adrenal cortex.
