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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
Congenital pancreatic enterokinase deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial hypodontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dentin dysplasia, type II Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary gingival fibromatosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ichthyosis congenita with biliary atresia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with organ/system involvement Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with multisystem involvement Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with organ/system involvement Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with multisystem involvement Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial duodenal ulcer associated with rapid gastric emptying Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cross syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial visceral neuropathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary gastrogenic lactose intolerance Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Gilbert's syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Intestinal lipofuscinosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Maturity onset diabetes mellitus in young Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Alpha-1-antitrypsin deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Benign recurrent intrahepatic cholestasis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Rotor syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hemochromatosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hartnup disorder, renal/jejunal type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Papillon-Lefèvre syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, type 8 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cherubism Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital lactase deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Peutz-Jeghers syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hepatic porphyria Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Intestinal enteropeptidase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hepatic methionine adenosyltransferase deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hollow viscus myopathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary pancreatitis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic colipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mucopolysaccharidosis type II Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial multiple polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Progressive intrahepatic cholestasis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Normopepsinogenemic familial duodenal ulcer Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculopharyngeal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Sucrase-isomaltase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic triacylglycerol lipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
White sponge nevus of mucosa Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Wilson's disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Crigler-Najjar syndrome, type I Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glucocorticoid deficiency with achalasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
White sponge nevus of mucosa Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glycogen synthase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease, hepatic form Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glycogenosis with glucoaminophosphaturia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Rotor syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dubin-Johnson syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleidocranial dysostosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Crigler-Najjar syndrome, type I Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial chronic pancreatitis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Nance-Horan syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
North American Indian childhood cirrhosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Beckwith-Wiedemann syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cowden syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonpolyposis colon cancer Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Arteriohepatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Shwachman syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial nonpolyposis colorectal cancer Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Anodontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Multiple gastrointestinal atresias Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Trichohepatoenteric syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary mucoepithelial dysplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mowat-Wilson syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Periodontitis co-occurrent with genetic disorder Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cholestanol storage disease Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Alpha-methylacyl-CoA racemase deficiency disorder Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital epithelial dysplasia of intestine Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia with cleft palate and camptodactyly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Isolated polycystic liver disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with ectodermal dysplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Odontoma dysphagia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Shprintzen Goldberg omphalocele syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hearing loss and salivary gland insensitivity to aldosterone syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary diffuse carcinoma of stomach Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex co-occurrent with pyloric atresia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Moyamoya disease with early onset achalasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial median cleft of upper and lower lip Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Achalasia microcephaly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus with cleft palate and joint contracture syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier

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