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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 Reference Sets
179087019 Familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

140 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial disease Is a Disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hypodontia Is a True Familial disease Inferred relationship Some
Familial Alzheimer's disease of early onset Is a True Familial disease Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Familial disease Inferred relationship Some
Familial febrile urticaria Is a True Familial disease Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying Is a True Familial disease Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Familial disease Inferred relationship Some
Familial cardiomyopathy Is a True Familial disease Inferred relationship Some
Familial adrenocortical hypoplasia Is a True Familial disease Inferred relationship Some
Familial C3B inhibitor deficiency syndrome Is a True Familial disease Inferred relationship Some
Familial amyloid polyneuropathy (disorder) Is a True Familial disease Inferred relationship Some
Hereditary motor neuron disease Is a False Familial disease Inferred relationship Some
Cherubism Is a False Familial disease Inferred relationship Some
Peutz-Jeghers syndrome Is a False Familial disease Inferred relationship Some
Familial neoplastic disease Is a True Familial disease Inferred relationship Some
Familial disease with storage of sterols (other than cholesterol) Is a True Familial disease Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Familial disease Inferred relationship Some
Familial hemorrhagic diathesis Is a True Familial disease Inferred relationship Some
Familial multiple polyposis syndrome Is a False Familial disease Inferred relationship Some
Familial renal iminoglycinuria Is a True Familial disease Inferred relationship Some
Normopepsinogenemic familial duodenal ulcer Is a True Familial disease Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Familial disease Inferred relationship Some
Familial hemiplegic migraine Is a True Familial disease Inferred relationship Some
Familial restrictive cardiomyopathy Is a False Familial disease Inferred relationship Some
Familial dysalbuminaemic hyperthyroxinaemia Is a True Familial disease Inferred relationship Some
Familial hypergastrinemic duodenal ulcer Is a True Familial disease Inferred relationship Some
Familial painful callosities (disorder) Is a True Familial disease Inferred relationship Some
Familial neonatal seizures Is a True Familial disease Inferred relationship Some
Chronic familial neutropaenia Is a True Familial disease Inferred relationship Some
Familial idiopathic pulmonary fibrosis (disorder) Is a True Familial disease Inferred relationship Some
Familial hirsutism (disorder) Is a True Familial disease Inferred relationship Some
Familial febrile convulsions Is a True Familial disease Inferred relationship Some
Familial hyperalphalipoproteinemia Is a True Familial disease Inferred relationship Some
Familial non-obstructive reflux-associated chronic pyelonephritis Is a True Familial disease Inferred relationship Some
Congenital familial idiopathic priapism Is a True Familial disease Inferred relationship Some
Familial aldosterone deficiency (disorder) Is a True Familial disease Inferred relationship Some
Familial abdominal aortic aneurysm (disorder) Is a True Familial disease Inferred relationship Some
Familial atrial fibrillation (disorder) Is a True Familial disease Inferred relationship Some
Familial idiopathic dilatation of right atrium (disorder) Is a True Familial disease Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) Is a True Familial disease Inferred relationship Some
Familial developmental dysphasia (disorder) Is a True Familial disease Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a True Familial disease Inferred relationship Some
Familial hypertryptophanemia (disorder) Is a True Familial disease Inferred relationship Some
Familial haemolytic uraemic syndrome Is a True Familial disease Inferred relationship Some
Familial hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Some
Familial Ménière disease (disorder) Is a True Familial disease Inferred relationship Some
Familial acute necrotizing encephalopathy (disorder) Is a True Familial disease Inferred relationship Some
Familial hypercholanemia (disorder) Is a True Familial disease Inferred relationship Some
Familial isolated congenital asplenia (disorder) Is a True Familial disease Inferred relationship Some
Familial porphyria cutanea tarda Is a True Familial disease Inferred relationship Some
Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) Is a True Familial disease Inferred relationship Some
Familial pericarditis Is a True Familial disease Inferred relationship Some
Familial benign copper deficiency Is a True Familial disease Inferred relationship Some
Familial nasal acilia (disorder) Is a True Familial disease Inferred relationship Some
Familial multiple nevi flammei (disorder) Is a True Familial disease Inferred relationship Some
Familial hyperprolactinemia Is a True Familial disease Inferred relationship Some
Familial vesicoureteral reflux (disorder) Is a True Familial disease Inferred relationship Some
Familial isolated clinodactyly of finger (disorder) Is a True Familial disease Inferred relationship Some
Familial cortical myoclonus Is a True Familial disease Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Familial disease Inferred relationship Some
Familial isolated trichomegaly Is a True Familial disease Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection Is a True Familial disease Inferred relationship Some
Familial lambdoid synostosis Is a True Familial disease Inferred relationship Some
Familial multiple lipomatosis (disorder) Is a True Familial disease Inferred relationship Some
Familial supernumerary nipple Is a True Familial disease Inferred relationship Some
Familial hemophagocytic lymphohistiocytosis (disorder) Is a True Familial disease Inferred relationship Some
Familial chronic mucocutaneous candidiasis Is a True Familial disease Inferred relationship Some
Familial osteodysplasia Anderson type (disorder) Is a True Familial disease Inferred relationship Some
Chronic Epstein-Barr virus infection syndrome Is a True Familial disease Inferred relationship Some
Familial cervical artery dissection (disorder) Is a True Familial disease Inferred relationship Some
Familial immunoglobulin A nephropathy (disorder) Is a True Familial disease Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) Is a True Familial disease Inferred relationship Some
Familial episodic pain syndrome Is a True Familial disease Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Familial disease Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Familial disease Inferred relationship Some
Familial recurrent peripheral facial palsy Is a True Familial disease Inferred relationship Some
Familial thrombomodulin anomalies (disorder) Is a True Familial disease Inferred relationship Some
Familial temporal lobe epilepsy (disorder) Is a True Familial disease Inferred relationship Some
Familial congenital mirror movements Is a True Familial disease Inferred relationship Some
Familial infantile myoclonic epilepsy Is a True Familial disease Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder) Is a True Familial disease Inferred relationship Some
Autosomal dominant epilepsy with auditory features (disorder) Is a True Familial disease Inferred relationship Some
Familial pulmonary capillary haemangiomatosis Is a True Familial disease Inferred relationship Some
Familial absence of villi Is a True Familial disease Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Familial disease Inferred relationship Some
Familial hematuria (disorder) Is a True Familial disease Inferred relationship Some
Isolated familial renal hypomagnesemia Is a True Familial disease Inferred relationship Some
Familial non-neuropathic amyloidosis Is a True Familial disease Inferred relationship Some
Familial hypospadias of penis (disorder) Is a True Familial disease Inferred relationship Some
Familial osteoarthropathy of the fingers Is a True Familial disease Inferred relationship Some
Familial pigmented purpuric eruption Is a True Familial disease Inferred relationship Some
Familial fibrous mediastinitis Is a True Familial disease Inferred relationship Some
Familial gestational hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Some
Haber's syndrome Is a True Familial disease Inferred relationship Some
Familial osteochondritis dissecans (disorder) Is a True Familial disease Inferred relationship Some
Familial idiopathic hypercalciuria Is a True Familial disease Inferred relationship Some
Idiopathic familial dystonia Is a True Familial disease Inferred relationship Some
Familial paroxysmal rhabdomyolysis Is a True Familial disease Inferred relationship Some
Familial obesity Is a True Familial disease Inferred relationship Some
Glomerular disease due to familial disease Due to True Familial disease Inferred relationship Some 2

This concept is not in any reference sets

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