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111941005: maladie familiale (trouble)


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
3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
659511000077115 maladie familiale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


155 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial disease est un(e) (attribut) Disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial chronic mucocutaneous candidiasis est un(e) (attribut) True Familial disease Inferred relationship Some
Familial osteodysplasia Anderson type (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Chronic Epstein-Barr virus infection syndrome est un(e) (attribut) True Familial disease Inferred relationship Some
Familial cervical artery dissection (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial immunoglobulin A nephropathy (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial episodic pain syndrome est un(e) (attribut) True Familial disease Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial recurrent peripheral facial palsy est un(e) (attribut) True Familial disease Inferred relationship Some
Familial thrombomodulin anomalies (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial temporal lobe epilepsy (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial congenital mirror movements est un(e) (attribut) True Familial disease Inferred relationship Some
Familial infantile myoclonic epilepsy est un(e) (attribut) True Familial disease Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder) est un(e) (attribut) False Familial disease Inferred relationship Some
Autosomal dominant epilepsy with auditory features (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial pulmonary capillary haemangiomatosis est un(e) (attribut) True Familial disease Inferred relationship Some
Familial absence of villi est un(e) (attribut) True Familial disease Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hematuria (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Isolated familial renal hypomagnesaemia est un(e) (attribut) True Familial disease Inferred relationship Some
Familial non-neuropathic amyloidosis est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hypospadias of penis (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial osteoarthropathy of the fingers (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial pigmented purpuric eruption est un(e) (attribut) True Familial disease Inferred relationship Some
Familial fibrous mediastinitis est un(e) (attribut) True Familial disease Inferred relationship Some
Familial gestational hyperthyroidism (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Haber's syndrome est un(e) (attribut) True Familial disease Inferred relationship Some
Familial osteochondritis dissecans (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial idiopathic hypercalciuria est un(e) (attribut) True Familial disease Inferred relationship Some
Idiopathic familial dystonia est un(e) (attribut) True Familial disease Inferred relationship Some
rhabdomyolyse familiale paroxystique est un(e) (attribut) True Familial disease Inferred relationship Some
Familial obesity est un(e) (attribut) True Familial disease Inferred relationship Some
Glomerular disease due to familial disease Due to True Familial disease Inferred relationship Some 2
Familial dyshormonogenetic goitre est un(e) (attribut) True Familial disease Inferred relationship Some
Familial patent arterial duct est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hyperreninemic hypoaldosteronism type 2 (disorder) est un(e) (attribut) False Familial disease Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease est un(e) (attribut) True Familial disease Inferred relationship Some
Familial chylomicronemia syndrome (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial cerebral saccular aneurysm (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hyperreninemic hypoaldosteronism type 1B est un(e) (attribut) True Familial disease Inferred relationship Some
Familial congenital nasolacrimal duct obstruction (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial intestinal malrotation est un(e) (attribut) True Familial disease Inferred relationship Some
Familial restrictive cardiomyopathy est un(e) (attribut) False Familial disease Inferred relationship Some
Familial dysalbuminaemic hyperthyroxinaemia est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hypergastrinemic duodenal ulcer est un(e) (attribut) True Familial disease Inferred relationship Some
néphropathie amyloïde familiale avec urticaire et surdité est un(e) (attribut) True Familial disease Inferred relationship Some
Familial febrile urticaria est un(e) (attribut) True Familial disease Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying est un(e) (attribut) True Familial disease Inferred relationship Some
Maturity onset diabetes mellitus in young est un(e) (attribut) False Familial disease Inferred relationship Some
Familial cardiomyopathy est un(e) (attribut) True Familial disease Inferred relationship Some
Familial adrenocortical hypoplasia est un(e) (attribut) True Familial disease Inferred relationship Some
syndrome familial de déficit en inhibiteurs du C3B est un(e) (attribut) True Familial disease Inferred relationship Some
neuropathie amyloïde familiale est un(e) (attribut) True Familial disease Inferred relationship Some
Familial painful callosities (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Hereditary motor neuron disease (disorder) est un(e) (attribut) False Familial disease Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Familial disease Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) False Familial disease Inferred relationship Some
néoplasie familiale est un(e) (attribut) True Familial disease Inferred relationship Some
maladie familiale avec stockage des stérols (autres que le cholestérol) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hemorrhagic diathesis est un(e) (attribut) True Familial disease Inferred relationship Some
convulsions néonatales familiales est un(e) (attribut) True Familial disease Inferred relationship Some
Familial multiple polyposis syndrome est un(e) (attribut) False Familial disease Inferred relationship Some
iminoglycinurie rénale familiale est un(e) (attribut) True Familial disease Inferred relationship Some
ulcère duodénal familial avec pepsinogène normal est un(e) (attribut) True Familial disease Inferred relationship Some
Chronic familial neutropenia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
alcalose hypokaliémique familiale de type Gullner est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hemiplegic migraine est un(e) (attribut) True Familial disease Inferred relationship Some
fibrose pulmonaire idiopathique familiale est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hirsutism (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hypodontia est un(e) (attribut) True Familial disease Inferred relationship Some
Familial febrile convulsions est un(e) (attribut) True Familial disease Inferred relationship Some
Familial Alzheimer's disease of early onset est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hyperalphalipoproteinemia est un(e) (attribut) True Familial disease Inferred relationship Some
Familial non-obstructive reflux-associated chronic pyelonephritis est un(e) (attribut) True Familial disease Inferred relationship Some
Congenital familial idiopathic priapism est un(e) (attribut) True Familial disease Inferred relationship Some
Familial aldosterone deficiency (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial abdominal aortic aneurysm (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial atrial fibrillation (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
dilatation idiopathique familiale de l'oreillette droite est un(e) (attribut) True Familial disease Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial developmental dysphasia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hypertryptophanemia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial haemolytic uraemic syndrome est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hyperthyroidism (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial Ménière disease (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
encéphalopathie nécrosante aigüe familiale est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hypercholanemia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial isolated congenital asplenia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
porphyrie cutanée tardive familiale (trouble) est un(e) (attribut) True Familial disease Inferred relationship Some
Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial pericarditis est un(e) (attribut) True Familial disease Inferred relationship Some
Familial benign copper deficiency est un(e) (attribut) True Familial disease Inferred relationship Some
Familial nasal acilia (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial multiple nevi flammei (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial hyperprolactinemia est un(e) (attribut) True Familial disease Inferred relationship Some
Familial vesicoureteral reflux (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial isolated clinodactyly of finger (disorder) est un(e) (attribut) True Familial disease Inferred relationship Some
Familial cortical myoclonus est un(e) (attribut) True Familial disease Inferred relationship Some

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