Digestive system hereditary disorder

Code	`363080007`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

1367882008AXIN2-related attenuated familial adenomatous polyposis disorder

718573009Achalasia microcephaly syndrome disorder

720461006Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein disorder

774207004Acute infantile liver failure with multisystemic involvement syndrome disorder

1187643003Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome disorder

720980004Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome disorder

30188007Alpha-1-antitrypsin deficiency disorder

63702009Alstrom syndrome disorder

715656004Aplasia of lacrimal and salivary gland disorder

31742004Arteriohepatic dysplasia disorder

763066009Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome disorder

722288007Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome disorder

717045004Autosomal dominant hyperinsulinism due to Kir6.2 deficiency disorder

717046003Autosomal dominant hyperinsulinism due to SUR1 deficiency disorder

783768006Autosomal recessive hyperinsulinism due to Kir6.2 deficiency disorder

783767001Autosomal recessive hyperinsulinism due to SUR1 deficiency disorder

81780002Beckwith-Wiedemann syndrome disorder

31155007Benign recurrent intrahepatic cholestasis disorder

716180009Boder syndrome disorder

717187000Boichis syndrome disorder

722377004Carney Stratakis syndrome disorder

1237346001Caroli syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

28724005Cholestasis-oedema syndrome, Norwegian type disorder

720507006Chronic atrial and intestinal dysrhythmia disorder

1187194006Chronic enteropathy associated with SLCO2A1 gene disorder

785727000Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity disorder

702364003Chylomicron retention disease disorder

719456001Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome disorder

1336027001Combined immunodeficiency due to RELA haploinsufficiency disorder

1197428008Combined immunodeficiency, enteropathy spectrum disorder

1279887007Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome disorder

773579007Congenital chronic diarrhoea with protein-losing enteropathy disorder

53748002Congenital junctional epidermolysis bullosa-pyloric atresia syndrome disorder

722392003Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells disorder

24412005Congenital secretory diarrhoea, chloride type disorder

773415005Contiguous ABCD1 DXS1357E deletion syndrome disorder

58037000Cowden syndrome disorder

8933000Crigler-Najjar syndrome, type I disorder

720820000Cutaneous photosensitivity and lethal colitis syndrome disorder

235978006Cystic fibrosis of pancreas disorder

720401009Cystic fibrosis with gastritis and megaloblastic anaemia syndrome disorder

86092005Cystic fibrosis with meconium ileus disorder

1172901009Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder disorder

733071009Deafness, small bowel diverticulosis, neuropathy syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

783741006Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency disorder

783740007Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency disorder

1299153008Digenic haemochromatosis disorder

44553005Dubin-Johnson syndrome disorder

716701004Epidermolysis bullosa simplex with pyloric atresia disorder

715830008Exercise-induced hyperinsulinism disorder

1230310007FTH1-related iron overload disorder

72900001Familial adenomatous polyposis disorder

62216007Familial arthrogryposis-cholestatic hepatorenal syndrome disorder

1264340007Familial gastric type 1 neuroendocrine neoplasm disorder

770900000Familial omphalocele syndrome with facial dysmorphism disorder

59229005Familial porphyria cutanea tarda disorder

20725005Familial visceral neuropathy disorder

774151000Ferro-cerebro-cutaneous syndrome disorder

1208726006Fever-associated acute infantile liver failure syndrome disorder

764963007Focal palmoplantar and gingival keratoderma disorder

1228875006GCGR-related hyperglucagonaemia disorder

771474005Gastric adenocarcinoma and proximal polyposis of stomach disorder

782946000Gastrocutaneous syndrome disorder

45414006Glucocorticoid deficiency with achalasia disorder

190749000Glucose-galactose malabsorption disorder

235908005Glycogen phosphorylase kinase deficiency disorder

6075009Glycogen storage disease, hepatic form disorder

237964009Glycogen synthase deficiency disorder

61598006Glycogenosis with glucoaminophosphaturia disorder

717822006Goldberg Shprintzen megacolon syndrome disorder

1186713004Growth delay, intellectual disability, hepatopathy syndrome disorder

774204006Growth retardation, mild developmental delay, chronic hepatitis syndrome disorder

1217380005HELIX syndrome disorder

315058005HNPCC - hereditary nonpolyposis colon cancer disorder

771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome disorder

724361001Hepatic veno-occlusive disease with immunodeficiency syndrome disorder

764962002Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disorder

400014002Hereditary benign intraepithelial dyskeratosis disorder

7425008Hereditary coproporphyria disorder

716859000Hereditary diffuse carcinoma of stomach disorder

1148766007Hereditary disorder of tooth disorder

25744000Hereditary gastrogenic lactose intolerance disorder

109620006Hereditary gingival fibromatosis disorder

1197033002Hereditary haemorrhagic telangiectasia of gingiva disorder

63684002Hereditary hollow viscus myopathy disorder

787410005Hereditary mixed polyposis syndrome disorder

403442005Hereditary mucoepithelial dysplasia disorder

68072000Hereditary pancreatitis disorder

302961007Hereditary splenic hypoplasia disorder

1288023007Hereditary well-differentiated neuroendocrine tumour of small intestine disorder

721221000Hirschsprung disease with deafness and polydactyly syndrome disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

721222007Hirschsprung disease with type D brachydactyly syndrome disorder

771441005Hyperbiliverdinaemia disorder

718106009Hyperinsulinism and hyperammonaemia syndrome disorder

721234004Hyperinsulinism due to HNF1A deficiency disorder

717048002Hyperinsulinism due to HNF4A deficiency disorder

717182006Hyperinsulinism due to deficiency of glucokinase disorder

721235003Hyperinsulinism due to insulin receptor deficiency disorder

721236002Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency disorder

721834007Hyperinsulinism due to uncoupling protein 2 deficiency disorder

773666007Hypoinsulinemic hypoglycaemia and body hemihypertrophy disorder

773673002Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome disorder

1173999006IL21-related infantile inflammatory bowel disease disorder

235916001Ichthyosis congenita with biliary atresia disorder

771333006Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome disorder

1186654001Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome disorder

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

236482006Inherited renal tubule insufficiency with cholestatic jaundice disorder

56661000Intestinal enteropeptidase deficiency disorder

715669000Intestinal epithelial dysplasia disorder

733447005Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency disorder

1363062007Isolated multiple intestinal atresia disorder

1220580006Isolated neonatal sclerosing cholangitis disorder

721847002Joubert syndrome with congenital hepatic fibrosis disorder

721873007Joubert syndrome with orofaciodigital defect disorder

9273005Juvenile polyposis syndrome disorder

722031003Kapur Toriello syndrome disorder

715989002Karandikar Maria Kamble syndrome disorder

1172591008Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome disorder

1237470001Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

253781004Megacystis, microcolon, hypoperistalsis syndrome disorder

237617006Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness disorder

782771007Mitochondrial DNA depletion syndrome hepatocerebrorenal form disorder

783734000Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

1779005Mohr syndrome disorder

703535000Mowat-Wilson syndrome disorder

718551002Moyamoya disease with early onset achalasia disorder

70737009Mucopolysaccharidosis, MPS-II disorder

773584001Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome disorder

773737004NPHP3-related Meckel-like syndrome disorder

784346006Navajo neurohepatopathy disorder

773662009Neonatal inflammatory skin and bowel disease disorder

724278007Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome disorder

773397000Non-hypoproteinaemic hypertrophic gastropathy disorder

722060007Oculogastrointestinal muscular dystrophy disorder

77097004Oculopharyngeal muscular dystrophy disorder

763829004Oculopharyngodistal myopathy disorder

763837007Oro-facial digital syndrome type 14 disorder

722105002Oro-facial digital syndrome type 5 disorder

722106001Oro-facial digital syndrome type 8 disorder

718680001Oro-facial digital syndrome type 9 disorder

239030004Orofacial-digital syndrome III disorder

239031000Orofacial-digital syndrome IV disorder

69478001Pancreatic colipase deficiency disorder

722206009Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome disorder

722207000Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome disorder

78960005Pancreatic triacylglycerol lipase deficiency disorder

40158001Papillon-Lefèvre syndrome disorder

719044008Partial pancreatic agenesis disorder

1197594000Periodic fever, infantile enterocolitis, autoinflammatory syndrome disorder

50869007Periodontal Ehlers-Danlos syndrome disorder

54411001Peutz-Jeghers syndrome disorder

237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction disorder

74162007Progressive intrahepatic cholestasis disorder

723829000Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome disorder

763891005Renal hepatic pancreatic dysplasia disorder

717053007Renal tubulopathy with encephalopathy and liver failure syndrome disorder

724000006Retinohepatoendocrinologic syndrome disorder

32891000Rotor syndrome disorder

723581006STAR syndrome disorder

723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder

89454001Shwachman syndrome disorder

723610009Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome disorder

78373000Sucrase-isomaltase deficiency disorder

1222709003Syndromic congenital sodium diarrhoea disorder

235915002Synthetic defect of bile acids disorder

204745000Total intestinal aganglionosis disorder

773649005Transient infantile hypertriglyceridaemia and hepatosteatosis disorder

782935003Tremor, nystagmus, duodenal ulcer syndrome disorder

703406006Trichohepatoenteric syndrome disorder

716239006Tungland Bellman syndrome disorder

715952000Waardenburg Shah syndrome disorder

389203001White sponge naevus disorder

88518009Wilson's disease disorder

766761000X-linked cleft palate and ankyloglossia disorder

724276006X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome disorder

Digestive system hereditary disorder

Parents (2)

Children (182)