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363080007: Digestive system hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Digestive system hereditary disorder Is a Disorder of digestive system true Inferred relationship Some
Digestive system hereditary disorder Finding site Structure of digestive system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
FTH1-related iron overload Is a True Digestive system hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Caroli syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
PLACK syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Is a False Digestive system hereditary disorder Inferred relationship Some
Glucocorticoid deficiency with achalasia Is a True Digestive system hereditary disorder Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying Is a False Digestive system hereditary disorder Inferred relationship Some
Cross syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Familial visceral neuropathy Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary gastrogenic lactose intolerance Is a True Digestive system hereditary disorder Inferred relationship Some
Gilbert's syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Intestinal lipofuscinosis Is a True Digestive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease Is a False Digestive system hereditary disorder Inferred relationship Some
Alpha-1 antitrypsin deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Benign recurrent intrahepatic cholestasis Is a False Digestive system hereditary disorder Inferred relationship Some
Rotor syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
White sponge naevus Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary haemochromatosis Is a False Digestive system hereditary disorder Inferred relationship Some
Hartnup disorder, renal/jejunal type Is a False Digestive system hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a True Digestive system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, type 8 Is a False Digestive system hereditary disorder Inferred relationship Some
Cherubism Is a False Digestive system hereditary disorder Inferred relationship Some
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Congenital lactase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Peutz-Jeghers syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatic porphyria Is a False Digestive system hereditary disorder Inferred relationship Some
Intestinal enteropeptidase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Glycogen synthase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease, hepatic form Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy Is a True Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary pancreatitis Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Digestive system hereditary disorder Inferred relationship Some
Pancreatic colipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a True Digestive system hereditary disorder Inferred relationship Some
Congenital pancreatic enterokinase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Familial multiple polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Progressive intrahepatic cholestasis Is a True Digestive system hereditary disorder Inferred relationship Some
Normopepsinogenaemic familial duodenal ulcer Is a False Digestive system hereditary disorder Inferred relationship Some
Oculopharyngeal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Rotor syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Dubin-Johnson syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Cleidocranial dysostosis Is a False Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a True Digestive system hereditary disorder Inferred relationship Some
White sponge naevus Is a False Digestive system hereditary disorder Inferred relationship Some
Wilson's disease Is a True Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a False Digestive system hereditary disorder Inferred relationship Some
Familial hypodontia Is a False Digestive system hereditary disorder Inferred relationship Some
Dentin dysplasia, type II Is a False Digestive system hereditary disorder Inferred relationship Some
Familial chronic pancreatitis Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary gingival fibromatosis Is a True Digestive system hereditary disorder Inferred relationship Some
Nance-Horan syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
North American Indian childhood cirrhosis Is a True Digestive system hereditary disorder Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Is a False Digestive system hereditary disorder Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Cowden syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary nonpolyposis colon cancer Is a True Digestive system hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Some
Shwachman syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Familial nonpolyposis colorectal cancer Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Some
Anodontia Is a False Digestive system hereditary disorder Inferred relationship Some
Multiple gastrointestinal atresias Is a True Digestive system hereditary disorder Inferred relationship Some
Trichohepatoenteric syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary mucoepithelial dysplasia Is a True Digestive system hereditary disorder Inferred relationship Some
Mowat-Wilson syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Ichthyosis congenita with biliary atresia Is a True Digestive system hereditary disorder Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement Is a False Digestive system hereditary disorder Inferred relationship Some
Primary Sjögren's syndrome with multisystem involvement Is a False Digestive system hereditary disorder Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement Is a False Digestive system hereditary disorder Inferred relationship Some
Secondary Sjögren's syndrome with multisystem involvement Is a False Digestive system hereditary disorder Inferred relationship Some
Periodontitis co-occurrent with genetic disorder Is a True Digestive system hereditary disorder Inferred relationship Some
Cholestanol storage disease Is a False Digestive system hereditary disorder Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder Is a False Digestive system hereditary disorder Inferred relationship Some
Aplasia of lacrimal and salivary gland Is a True Digestive system hereditary disorder Inferred relationship Some
Intestinal epithelial dysplasia Is a True Digestive system hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Reardon Hall Slaney syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Isolated polycystic liver disease Is a True Digestive system hereditary disorder Inferred relationship Some
Zlotogora Ogur syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Lowry Yong syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Boder syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Tungland Bellman syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary diffuse carcinoma of stomach Is a True Digestive system hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a True Digestive system hereditary disorder Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia Is a True Digestive system hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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