363080007: Digestive system hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\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
3430441000052115 ärftlig sjukdom i matspjälkningssystemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Digestive system hereditary disorder (disorder)	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Digestive system hereditary disorder (disorder)	Is a	Disorder of digestive system (disorder)	true	Inferred relationship	Some
Digestive system hereditary disorder (disorder)	Finding site	Structure of digestive system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
medfödd brist på pankreatiskt enterokinas	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial hypodontia	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Dentin dysplasia, type II	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary gingival fibromatosis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ichthyosis congenita with biliary atresia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
primärt Sjögrens syndrom med organ- eller systemengagemang	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
primärt Sjögrens syndrom med multisystemengagemang	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
sekundärt Sjögrens syndrom med organ- eller systemengagemang	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
sekundärt Sjögrens syndrom med multisystemengagemang	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial duodenal ulcer associated with rapid gastric emptying	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cross syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial visceral neuropathy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary gastrogenic lactose intolerance	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Gilbert's syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Intestinal lipofuscinosis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
juvenil diabetes mellitus med debut i vuxen ålder	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glycogen storage disease	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Benign recurrent intrahepatic cholestasis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Rotor syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary hemochromatosis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hartnup disorder, renal/jejunal type	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
kerubism	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital lactase deficiency	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hepatic porphyria	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Intestinal enteropeptidase deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary hollow viscus myopathy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary pancreatitis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Pancreatic colipase deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Normopepsinogenemic familial duodenal ulcer	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Oculopharyngeal muscular dystrophy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Sucrase-isomaltase deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Pancreatic triacylglycerol lipase deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
White sponge nevus of mucosa	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Wilson's disease	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glucocorticoid deficiency with achalasia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
White sponge nevus of mucosa (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glycogen synthase deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glycogen storage disease, hepatic form	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Rotor syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Dubin-Johnson syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial chronic pancreatitis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Nance-Horan syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
North American Indian childhood cirrhosis	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cowden syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
HNPCC - hereditary nonpolyposis colon cancer	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Arteriohepatic dysplasia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Shwachman syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
familjär icke-polypös kolorektalcancer	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Amelogenesis imperfecta (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Anodontia	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Multiple gastrointestinal atresias	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary mucoepithelial dysplasia (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Periodontitis co-occurrent with genetic disorder (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cholestanol storage disease	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Alpha-methylacyl-CoA racemase deficiency disorder	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital epithelial dysplasia of intestine (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Isolated polycystic liver disease (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Lowry Yong syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Shprintzen Goldberg omphalocele syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Tungland Bellman syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary diffuse carcinoma of stomach (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Moyamoya disease with early onset achalasia (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial median cleft of upper and lower lip (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ablepharon macrostomia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some

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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
3430441000052115	ärftlig sjukdom i matspjälkningssystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)