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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
482215018 Digestive system hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6064221000241114 affection héréditaire de l'appareil digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064231000241111 affection héréditaire du système digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064221000241114 affection héréditaire de l'appareil digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064231000241111 affection héréditaire du système digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

358 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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digestive system hereditary disorder Is a Disease of digestive system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digestive system hereditary disorder Finding site Structure of digestive system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept)
Familial hypodontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia, type II (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary gingival fibromatosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis congenita with biliary atresia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial duodenal ulcer associated with rapid gastric emptying (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cross syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial visceral neuropathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary gastrogenic lactose intolerance (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gilbert's syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal lipofuscinosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-1-antitrypsin deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign recurrent intrahepatic cholestasis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rotor syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hartnup disorder, renal/jejunal type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Periodontal Ehlers-Danlos syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lactase deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic porphyria Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal enteropeptidase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic methionine adenosyltransferase deficiency Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hollow viscus myopathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary pancreatitis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic colipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive intrahepatic cholestasis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Normopepsinogenemic familial duodenal ulcer Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngeal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sucrase-isomaltase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic triacylglycerol lipase deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
White sponge nevus of mucosa Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wilson's disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Crigler-Najjar syndrome, type I (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucocorticoid deficiency with achalasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
White sponge nevus of mucosa (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen synthase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, hepatic form Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis with glucoaminophosphaturia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rotor syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dubin-Johnson syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Crigler-Najjar syndrome, type I (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial chronic pancreatitis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
North American Indian childhood cirrhosis Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ohdo syndrome, Maat-Kievit-Brunner type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cowden syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonpolyposis colon cancer (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arteriohepatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial nonpolyposis colorectal cancer Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Anodontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple intestinale Atresie Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trichohepatoenteric syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary mucoepithelial dysplasia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with genetic disorder (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cholestanol storage disease Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-methylacyl-CoA racemase deficiency disorder Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal epithelial dysplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Boder syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg omphalocele syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial median cleft of upper and lower lip Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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