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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
Amelogenesis imperfecta - hypoplastic autosomal dominant - local est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Glucocorticoid deficiency with achalasia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cross syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Familial visceral neuropathy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary gastrogenic lactose intolerance est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome de Gilbert est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Intestinal lipofuscinosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Alpha-1-antitrypsin deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
cholestase intrahépatique récurrente bénigne (trouble) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de Rotor (trouble) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
White sponge nevus of mucosa (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
hémochromatose héréditaire (trouble) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hartnup disorder, renal/jejunal type est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, type 8 (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital lactase deficiency est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
porphyrie hépatique (trouble) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Intestinal enteropeptidase deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Glycogen synthase deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease, hepatic form est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Glycogenosis with glucoaminophosphaturia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hereditary pancreatitis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Pancreatic colipase deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-II est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital pancreatic enterokinase deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial multiple polyposis syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Progressive intrahepatic cholestasis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
ulcère duodénal familial avec pepsinogène normal est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Oculopharyngeal muscular dystrophy est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome de Rotor (trouble) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome de Dubin-Johnson est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cleidocranial dysostosis est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
White sponge nevus of mucosa (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Wilson's disease est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Familial hypodontia est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Dentin dysplasia, type II est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Familial chronic pancreatitis est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hereditary gingival fibromatosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Nance-Horan syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
North American Indian childhood cirrhosis est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de Beckwith-Wiedemann est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome des hamartomes multiples (trouble) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
cancer du côlon héréditaire non polyposique est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Shwachman syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial nonpolyposis colorectal cancer (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
anodontie est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Multiple gastrointestinal atresias est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Trichohepatoenteric syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary mucoepithelial dysplasia (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mowat-Wilson syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Ichthyosis congenita with biliary atresia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Periodontitis co-occurrent with genetic disorder (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cholestanol storage disease est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital epithelial dysplasia of intestine (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Isolated polycystic liver disease (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Odontoma dysphagia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Tungland Bellman syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hereditary diffuse carcinoma of stomach (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some

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