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363080007: Digestive system hereditary disorder (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
482215018 Digestive system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754864016 Digestive system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

342 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digestive system hereditary disorder est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Digestive system hereditary disorder est un(e) (attribut) maladie de l'appareil digestif true Inferred relationship Some
Digestive system hereditary disorder localisation d'une constatation (attribut) système digestif true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hyperbiliverdinaemia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
XTE syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Non-hypoproteinemic hypertrophic gastropathy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
diarrhée chronique congénitale avec entéropathie exsudative est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
NPHP3-related Meckel-like syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hereditary splenic hypoplasia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Gastrocutaneous syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Harlequin ichthyosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Holzgreve syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Navajo neurohepatopathy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary mixed polyposis syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
porphyrie cutanée tardive familiale (trouble) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary disturbances in tooth structure (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Schinzel-Giedion syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Total intestinal aganglionosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Odontotrichomelic syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
dermato-ostéolyse type Kirghize est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cystic fibrosis with meconium ileus est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cystic fibrosis of pancreas est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cholestasis-edema syndrome, Norwegian type est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta - Shield's type II est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Benign intrahepatic cholestasis type 1 est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant polycystic liver disease est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Juvenile polyposis syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital secretory diarrhea, chloride type est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital palmoplantar and perioral keratoderma of Olmsted est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary disorder of tooth est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
défaut de synthèse des acides biliaires est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mohr syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Orofacial-digital syndrome III est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Orofacial-digital syndrome IV est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary hemorrhagic telangiectasia of gingiva est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Fever-associated acute infantile liver failure syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Syndromic congenital sodium diarrhoea est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Glucagon receptor-related hyperglucagonemia (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
FTH1-related iron overload est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some

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