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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

351 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digestive system hereditary disorder (disorder) Is a Hereditary disorder by system true Inferred relationship Some
Digestive system hereditary disorder (disorder) Is a Disorder of digestive system (disorder) true Inferred relationship Some
Digestive system hereditary disorder (disorder) Finding site Structure of digestive system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Ectodermal dysplasia syndactyly syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Hyperbiliverdinaemia Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
XTE syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Non-hypoproteinemic hypertrophic gastropathy Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Genitopalatocardiac syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Ferro-cerebro-cutaneous syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary splenic hypoplasia Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Gastrocutaneous syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Harlequin ichthyosis Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Holzgreve syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Navajo neurohepatopathy Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary mixed polyposis syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Familial porphyria cutanea tarda Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary disturbances in tooth structure Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Schinzel-Giedion syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Total intestinal aganglionosis (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Odontotrichomelic syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Dermo-odonto dysplasia (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Oculotrichodysplasia (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Book syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Teebi Shaltout syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Cystic fibrosis with meconium ileus Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Cystic fibrosis of pancreas Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Cholestasis-edema syndrome, Norwegian type Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Dentinogenesis imperfecta - Shield's type II Is a False Digestive system hereditary disorder (disorder) Inferred relationship Some
Benign intrahepatic cholestasis type 1 Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant polycystic liver disease Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Juvenile polyposis syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Congenital secretory diarrhea, chloride type Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Congenital palmoplantar and perioral keratoderma of Olmsted Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary disorder of tooth Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Mohr syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Orofacial-digital syndrome III Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Orofacial-digital syndrome IV Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary hemorrhagic telangiectasia of gingiva Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Fever-associated acute infantile liver failure syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Syndromic congenital sodium diarrhoea Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Digestive system hereditary disorder (disorder) Inferred relationship Some

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