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363080007: Digestive system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482215018 Digestive system hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754864016 Digestive system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

348 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digestive system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Digestive system hereditary disorder Is a Disorder of digestive system true Inferred relationship Existential restriction modifier
Digestive system hereditary disorder Finding site Structure of digestive system true Inferred relationship Existential restriction modifier 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 Inferred relationship Existential restriction modifier
Ectodermal dysplasia syndactyly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperbiliverdinemia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Xeroderma, talipes and enamel defect syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis and dental anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Contiguous ABCD1 DXS1357E deletion syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Non-hypoproteinemic hypertrophic gastropathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital chronic diarrhea with protein-losing enteropathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal inflammatory skin and bowel disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Flat face, microstomia, ear anomaly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ferro-cerebro-cutaneous syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Acute infantile liver failure with multisystemic involvement syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary splenic hypoplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Tremor, nystagmus, duodenal ulcer syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Gastrocutaneous syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Harlequin ichthyosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Navajo neurohepatopathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary mixed polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial porphyria cutanea tarda Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary disturbances in tooth structure Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Schinzel-Giedion syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Total intestinal aganglionosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrotic X-linked ectodermal dysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Odontotrichomelic syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Megacystis, microcolon, hypoperistalsis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dermatoosteolysis Kirghizian type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dermo-odonto dysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with blindness syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculoosteocutaneous syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculotrichodysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Book syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Stern Lubinsky Durrie syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Teebi Shaltout syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Conductive deafness, ptosis, skeletal anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Curly hair, acral keratoderma, caries syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Arthrogryposis and ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cystic fibrosis with meconium ileus Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cystic fibrosis of pancreas Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cholestasis-edema syndrome, Norwegian type Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta - Shield's type II Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Benign intrahepatic cholestasis type 1 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant polycystic liver disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Juvenile polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital secretory diarrhea, chloride type Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital palmoplantar and perioral keratoderma of Olmsted Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary disorder of tooth Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Synthetic defect of bile acids Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mohr syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome III Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome IV Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Growth delay, intellectual disability, hepatopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency, enteropathy spectrum Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hemorrhagic telangiectasia of gingiva Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema, posterior choanal atresia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Fever-associated acute infantile liver failure syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Isolated neonatal sclerosing cholangitis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Nephronophthisis hepatic fibrosis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary malignant neuroendocrine neoplasm of small intestine Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Syndromic congenital sodium diarrhea Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glucagon receptor-related hyperglucagonemia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier

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