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111941005: Familial disease (disorder)

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
179087019 Familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
179087019 Familial disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
179087019 Familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
635166017 Familial disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

174 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial disease Is a Disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hypodontia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer's disease of early onset Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial febrile urticaria Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial duodenal ulcer associated with rapid gastric emptying (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial cardiomyopathy Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenocortical hypoplasia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial C3B inhibitor deficiency syndrome Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor neuron disease Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial neoplastic disease Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial disease with storage of sterols (other than cholesterol) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemorrhagic diathesis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple polyposis syndrome Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal iminoglycinuria Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Normopepsinogenemic familial duodenal ulcer Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypokalemic alkalosis, Gullner type (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemiplegic migraine Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial restrictive cardiomyopathy (disorder) Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial dysalbuminaemic hyperthyroxinaemia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypergastrinemic duodenal ulcer Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial painful callosities (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
convulsions néonatales familiales Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial idiopathic pulmonary fibrosis (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hirsutism (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial febrile convulsions Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperalphalipoproteinemia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial non-obstructive reflux-associated chronic pyelonephritis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital familial idiopathic priapism Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypoaldosteronism Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial abdominal aortic aneurysm (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial atrial fibrillation (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial idiopathic dilatation of right atrium Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial developmental dysphasia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to insulin receptor deficiency Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypertryptophanaemia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial haemolytic uraemic syndrome Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial Ménière disease (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypercholanemia (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated congenital asplenia (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial porphyria cutanea tarda (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Adult familial nephronophthisis with spastic quadriparesia syndrome Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial pericarditis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial benign copper deficiency Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial nasal acilia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple nevi flammei Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperprolactinemia (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated clinodactyly of finger Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial myoclonus of cerebral cortex (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial thoracic aortic aneurysm and aortic dissection Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
synostose lambdoïde familiale Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple lipomatosis (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial supernumerary nipple Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemophagocytic lymphohistiocytosis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial chronic mucocutaneous candidiasis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare infectious disease with characteristics of familial primary chronic Epstein-Barr virus infection, which typically manifests with persistent mononucleosis-like signs and symptoms in the absence of secondary immunodeficiency. Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial cervical artery dissection (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial immunoglobulin A nephropathy Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital palsy of trochlear nerve (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial episodic pain syndrome (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial recurrent peripheral facial palsy Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial thrombomodulin anomalies (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial temporal lobe epilepsy (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital mirror movements (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial mesial temporal lobe epilepsy with febrile seizures Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial epilepsy with auditory features Is a False Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial pulmonary capillary haemangiomatosis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial absence of villi (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hematuria Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated familial renal hypomagnesaemia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial non-neuropathic amyloidosis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypospadias of penis (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Thiemann disease familial form (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial pigmented purpuric eruption (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial fibrous mediastinitis (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial gestational hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Haber's syndrome Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteochondritis dissecans Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial idiopathic hypercalciuria Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic familial dystonia Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial paroxysmal rhabdomyolysis Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial obesity Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Glomerular disease due to familial disease Due to True Familial disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial dyshormonogenetic goiter Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. Is a True Familial disease Inferred relationship Existential restriction modifier (core metadata concept)

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