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363104002: Hereditary disorder of endocrine system (disorder)

Status: current, 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
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
482239011 Hereditary disorder of endocrine systen en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754890018 Hereditary disorder of endocrine systen (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

287 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of endocrine system (disorder) Is a Disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinohepatoendocrinologic syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
46,XY partial gonadal dysgenesis Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Laminopathy type Decaudain Vigouroux Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxal 5-phosphate dependent epilepsy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with precocious puberty syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thyrocerebrorenal syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxine-dependent epilepsy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated follicle stimulating hormone deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adrenomyodystrophy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperprolactinemia (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial glucocorticoid deficiency (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked acrogigantism Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leydig cell agenesis Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal hepatic pancreatic dysplasia (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of pancreas (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leprechaunism syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thymic, renal, anal, lung dysplasia syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pancreatic enterokinase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic triacylglycerol lipase deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary pancreatitis Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic colipase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Insulin resistance - type A Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndrome of apparent mineralocorticoid excess Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type 1C (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis of pancreas Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A genetic condition characterised by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans with insulin resistance Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperandrogenism due to cortisone reductase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial nonmedullary primary thyroid carcinoma (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
diabète sucré concomitant et dû à la mucoviscidose Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ovarialkarzinom, lagespezifisches Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoinsulinemic hypoglycaemia and body hemihypertrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corticosteroid-binding globulin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurologic disease with characteristics of 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). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dyshormonogenic goiter Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polyglandular autoimmune syndrome, type 1 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperproinsulinaemia Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ovarioleukodystrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes of the young, type 2 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes of the young, type 1 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young, type 3 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young, type 5 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young, type 8 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young, type 10 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young, type 11 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked panhypopituitarism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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