| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Fetal virilism |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Fetal endocrine disorder |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Ketosis-prone diabetes mellitus |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Iatrogenic hypoglycaemia |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Pre-existing malnutrition-related diabetes mellitus in pregnancy |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Normal hormonal activity |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Normal hormone production |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Fetal virilism |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Syndrome of infant of diabetic mother |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Transitory metabolic disturbance in infant of pre-diabetic mother |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Perinatal disorder of glucose regulation of fetus and/or neonate (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Perinatal thyroid disorder of fetus and/or neonate (disorder) |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Transient hypothyroxinemia |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Perinatal endocrine and metabolic disorders |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Syndrome of infant of mother with gestational diabetes |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Hypothyroxinemia of prematurity |
Finding site |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Transitory metabolic disturbance in infant of pre-diabetic mother |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| Fulminant type 1 diabetes mellitus (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Ketosis-resistant diabetes mellitus |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Psychogenic endocrine malfunction |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Alopecia due to thyroid disorder |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| Paracentesis of endocrine organ |
Procedure site - Direct (attribute) |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Paracentesis of endocrine organ |
Procedure site - Indirect (attribute) |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Carcinoid syndrome |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
4 |
| Nuclear medicine diagnostic procedure on endocrine system |
Procedure site - Direct (attribute) |
False |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Presymptomatic diabetes mellitus type 1 (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Nocturnal hypoglycaemia |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Type 1 diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Type II diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Type I diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Uncontrolled gestational diabetes mellitus (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Type II diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Newly diagnosed type 1 diabetes mellitus |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| Well controlled type 2 diabetes mellitus (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Type 2 diabetes mellitus controlled by diet |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
2 |
| Disorder due to well controlled type 2 diabetes mellitus (disorder) |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
3 |
| Newly diagnosed diabetes |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
| DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. |
Finding site |
True |
Structure of endocrine system (body structure) |
Inferred relationship |
Some |
1 |
FHIR