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68594002: Adrenal cortex structure (body structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
113940017 Adrenal cortex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
501057011 Adrenal cortex structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808446019 Adrenal cortex structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
880611000172118 cortex de la glande suprarénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896801000172116 cortex glandula suprarenalis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903401000172117 structure du cortex surrénalien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944591000172118 corticosurrénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014061000172117 cortex surrénalien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7020261000241116 structure du cortex de la glande suprarénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


15 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adrenal cortex structure Is a Layer of adrenal gland true Inferred relationship Some
Adrenal cortex structure partie de Entire adrenal gland false Additional relationship Some
Adrenal cortex structure Laterality Side (qualifier value) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Corticosterone 18-monooxygenase deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Salt-losing congenital adrenal hyperplasia Finding site True Adrenal cortex structure Inferred relationship Some 1
Testosterone 17-beta-dehydrogenase deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site False Adrenal cortex structure Inferred relationship Some 3
3 beta-Hydroxysteroid dehydrogenase deficiency Finding site False Adrenal cortex structure Inferred relationship Some 2
Congenital adrenal hyperplasia Finding site True Adrenal cortex structure Inferred relationship Some 1
Deficiency of steroid 17-alpha-monooxygenase Finding site True Adrenal cortex structure Inferred relationship Some 1
Deficiency of steroid 11-beta-monooxygenase Finding site True Adrenal cortex structure Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Finding site False Adrenal cortex structure Inferred relationship Some 3
Late onset congenital adrenal hyperplasia Finding site True Adrenal cortex structure Inferred relationship Some 1
Congenital primary adrenocortical hypofunction Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial hyperaldosteronism Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. Finding site True Adrenal cortex structure Inferred relationship Some 1
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial hyperaldosteronism type 3 (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Primary hyperaldosteronism due to aldosterone-secreting malignant neoplasm of adrenal gland Finding site True Adrenal cortex structure Inferred relationship Some 2
Accessory adrenal cortex Finding site True Adrenal cortex structure Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, simple virilizing type Finding site True Adrenal cortex structure Inferred relationship Some 1
17 alpha-Hydroxyprogesterone aldolase deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Finding site True Adrenal cortex structure Inferred relationship Some 1
Adolescent X-linked adrenoleukodystrophy (disorder) Finding site False Adrenal cortex structure Inferred relationship Some
Pseudohermaphrodite, female with adrenocortical disorder Finding site True Adrenal cortex structure Inferred relationship Some 1
Virilisation-adrenogenital syndrome Finding site True Adrenal cortex structure Inferred relationship Some 1
Juxtaglomerular hyperplasia co-occurrent with secondary hyperaldosteronism (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 2
Hyperaldosteronism co-occurrent with hyperplasia of the adrenal cortex Finding site True Adrenal cortex structure Inferred relationship Some 1
Childhood cerebral X-linked adrenoleukodystrophy Finding site False Adrenal cortex structure Inferred relationship Some
Salt-losing congenital adrenal hyperplasia with virilism Finding site True Adrenal cortex structure Inferred relationship Some 1
Tuberculous Addison's disease Finding site True Adrenal cortex structure Inferred relationship Some 3
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. Finding site False Adrenal cortex structure Inferred relationship Some
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. Finding site False Adrenal cortex structure Inferred relationship Some 2
A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Finding site True Adrenal cortex structure Inferred relationship Some 1
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. Finding site False Adrenal cortex structure Inferred relationship Some 2
dysplasie micronodulaire pigmentée des surrénales Finding site False Adrenal cortex structure Inferred relationship Some 1
Adrenocortical hypofunction following procedure (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 2
Severe steroid 21-hydroxylase deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial adrenocortical hypoplasia Finding site True Adrenal cortex structure Inferred relationship Some 1
Moderate steroid 21-hydroxylase deficiency Finding site True Adrenal cortex structure Inferred relationship Some 1
Adrenoleukodystrophy Finding site False Adrenal cortex structure Inferred relationship Some 1
Hereditary adrenal unresponsiveness to corticotropin Finding site True Adrenal cortex structure Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, dominant form Finding site True Adrenal cortex structure Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, recessive form Finding site True Adrenal cortex structure Inferred relationship Some 1
Neonatal adrenoleukodystrophy Finding site True Adrenal cortex structure Inferred relationship Some 1
Acyl-CoA oxidase deficiency Finding site False Adrenal cortex structure Inferred relationship Some 1
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. Finding site True Adrenal cortex structure Inferred relationship Some 1
dysplasie micronodulaire pigmentée des surrénales Finding site False Adrenal cortex structure Inferred relationship Some 2
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. Finding site True Adrenal cortex structure Inferred relationship Some 4
Adolescent X-linked adrenoleukodystrophy (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Childhood cerebral X-linked adrenoleukodystrophy Finding site True Adrenal cortex structure Inferred relationship Some 1
Glucocorticoid deficiency with achalasia Finding site True Adrenal cortex structure Inferred relationship Some 3
Adrenal carcinoma Finding site True Adrenal cortex structure Inferred relationship Some 2
An extremely rare genetic endocrine disease characterised by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. Finding site True Adrenal cortex structure Inferred relationship Some 1
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Finding site True Adrenal cortex structure Inferred relationship Some 1
A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. Finding site True Adrenal cortex structure Inferred relationship Some 2
Acquired benign adrenal androgenic overactivity Finding site True Adrenal cortex structure Inferred relationship Some 1
Acquired adrenogenital syndrome Finding site True Adrenal cortex structure Inferred relationship Some 1
A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception. Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. Finding site True Adrenal cortex structure Inferred relationship Some 1
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). Finding site True Adrenal cortex structure Inferred relationship Some 2
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form Finding site True Adrenal cortex structure Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Precocious puberty with adrenocortical hyperfunction (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 3
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Nodular hyperplasia of adrenal cortex (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Nodule of adrenal cortex (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Structure of left adrenal cortex Is a True Adrenal cortex structure Inferred relationship Some
Structure of right adrenal cortex (body structure) Is a True Adrenal cortex structure Inferred relationship Some
Adrenocorticotropic hormone resistance syndrome Finding site True Adrenal cortex structure Inferred relationship Some 2
Adrenal cortical hypofunction due to interruption of corticosteroid therapy (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial hyperreninemic hypoaldosteronism type 2 (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). Finding site True Adrenal cortex structure Inferred relationship Some 1
Atrophy of adrenal cortex (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial hyperreninemic hypoaldosteronism type 1A Finding site True Adrenal cortex structure Inferred relationship Some 1
Familial hyperreninemic hypoaldosteronism type 1B Finding site True Adrenal cortex structure Inferred relationship Some 1
Female adrenal virilization Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. Finding site True Adrenal cortex structure Inferred relationship Some 2
Primary adrenal cortical carcinoma (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
Adrenoleukodystrophy Finding site True Adrenal cortex structure Inferred relationship Some 3
Adrenomyeloneuropathy (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 3
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Whilst PRKAR1A variants are associated with CNC (Carney complex), the mutation c.709-7del6 is mostly associated with i-PPNAD. Other mutations associated with i-PPNAD include PRKACA (germline copy-number gains), PDE11A and PDE8B genes, although these are rare. Finding site True Adrenal cortex structure Inferred relationship Some 1
Carney complex-associated-primary pigmented nodular adrenocortical disease (disorder) Finding site True Adrenal cortex structure Inferred relationship Some 1
A rare familial hyperaldosteronism characterised by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalaemia. Developmental delay, learning disabilities, behavioural abnormalities, and attention deficit disorder are observed in some patients. Finding site True Adrenal cortex structure Inferred relationship Some 1
A form of adrenal Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex. Most adenomas arise in a sporadic setting, with somatic variants in PRKACA gene (around 40% of cases), or other genes such CTNNB1, GNAS, and PRKAR1A, PRKACB. Germline mutations are rare (MEN1). Finding site True Adrenal cortex structure Inferred relationship Some 1
Inadequate corticosteroid production relative to the severity of a critical illness, leading to an impaired stress response. Adrenal insufficiency is due to impaired functioning of the hypothalamic-pituitary-adrenal axis, altered cortisol metabolism, and tissue corticosteroid resistance. It is commonly associated with sepsis, septic shock, and other severe critical illnesses. Finding site True Adrenal cortex structure Inferred relationship Some 1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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