Disorder of digestive system	Hereditary disorder by system
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Digestive system hereditary disorder (disorder)
	Digestive system hereditary disorder
	hereditaire aandoening van spijsverteringsstelsel
	erfelijke aandoening van systema digestorium erfelijke aandoening van tractus digestivus

Id	363080007
Status	Defined

Finding site

Structure of digestive system

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

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Ablepharon macrostomia syndrome

Achalasia microcephaly syndrome

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

Acute infantile liver failure with multisystemic involvement syndrome

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

Alpha-1-antitrypsin deficiency

Aplasia of lacrimal and salivary gland

Arteriohepatic dysplasia

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant polycystic liver disease

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Beckwith-Wiedemann syndrome

Benign intrahepatic cholestasis type 1

Boichis syndrome

Carney Stratakis syndrome

Choanal atresia with radial ray hypoplasia

Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome

Cholestasis-edema syndrome, Norwegian type

Chronic atrial and intestinal dysrhythmia

Chronic enteropathy associated with SLCO2A1 gene

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome

Cleft lip retinopathy syndrome

Combined immunodeficiency, enteropathy spectrum

Congenital chronic diarrhea with protein-losing enteropathy

Congenital junctional epidermolysis bullosa-pyloric atresia syndrome

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Congenital palmoplantar and perioral keratoderma of Olmsted

Congenital pancreatic enterokinase deficiency

Congenital secretory diarrhea, chloride type

Contiguous ABCD1 DXS1357E deletion syndrome

Cowden syndrome

Crigler-Najjar syndrome, type I

Cutaneous photosensitivity and lethal colitis syndrome

Cystic fibrosis of pancreas1

Cystic fibrosis with gastritis and megaloblastic anemia syndrome

Cystic fibrosis with gastritis and megaloblastic anemia syndrome

Cystic fibrosis with intestinal findings3

Cystic fibrosis with liver disease

Cystic fibrosis with meconium ileus

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Deafness, small bowel diverticulosis, neuropathy syndrome

Deafness, vitiligo, achalasia syndrome

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Dubin-Johnson syndrome

Epidermolysis bullosa simplex with pyloric atresia

Epidermolysis bullosa simplex with pyloric atresia

Exercise-induced hyperinsulinism

Exercise-induced hyperinsulinism

Familial arthrogryposis-cholestatic hepatorenal syndrome

Familial median cleft of upper and lower lip

Familial multiple polyposis syndrome6

Familial omphalocele syndrome with facial dysmorphism

Familial porphyria cutanea tarda

Familial visceral neuropathy2

Ferro-cerebro-cutaneous syndrome

Fever-associated acute infantile liver failure syndrome

Flat face, microstomia, ear anomaly syndrome

Focal palmoplantar and gingival keratoderma

FTH1-related iron overload

Gastric adenocarcinoma and proximal polyposis of stomach

Gastrocutaneous syndrome

GCGR-related hyperglucagonemia

Glucocorticoid deficiency with achalasia

Glycogen phosphorylase kinase deficiency3

Glycogen storage disease, hepatic form6

Glycogen synthase deficiency1

Glycogen synthase deficiency1

Glycogenosis with glucoaminophosphaturia

Goldberg Shprintzen megacolon syndrome

Growth delay, intellectual disability, hepatopathy syndrome

Growth retardation, intellectual developmental disorder and hepatopathy syndrome

Growth retardation, mild developmental delay, chronic hepatitis syndrome

Harlequin ichthyosis

Hepatic veno-occlusive disease with immunodeficiency syndrome

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary benign intraepithelial dyskeratosis

Hereditary coproporphyria2

Hereditary diffuse carcinoma of stomach

Hereditary disorder of tooth52

Hereditary gastrogenic lactose intolerance

Hereditary gingival fibromatosis3

Hereditary hemorrhagic telangiectasia of gingiva

Hereditary hollow viscus myopathy

Hereditary hollow viscus myopathy

Hereditary malignant neuroendocrine neoplasm of small intestine

Hereditary mixed polyposis syndrome

Hereditary mucoepithelial dysplasia

Hereditary pancreatitis2

Hereditary splenic hypoplasia

Hirschsprung disease with deafness and polydactyly syndrome

Hirschsprung disease with nail hypoplasia and dysmorphism

Hirschsprung disease with type D brachydactyly syndrome

HNPCC - hereditary nonpolyposis colon cancer5

Holzgreve syndrome

Hyperbiliverdinemia

Hyperinsulinism and hyperammonemia syndrome

Hyperinsulinism and hyperammonemia syndrome

Hyperinsulinism due to deficiency of glucokinase

Hyperinsulinism due to deficiency of glucokinase

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinism due to HNF4A deficiency

Hyperinsulinism due to HNF4A deficiency

Hyperinsulinism due to insulin receptor deficiency

Hyperinsulinism due to insulin receptor deficiency

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

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

Hyperinsulinism due to uncoupling protein 2 deficiency

Hyperinsulinism due to uncoupling protein 2 deficiency

Hypertelorism with microtia and facial clefting syndrome

Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome

Ichthyosis congenita with biliary atresia

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

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

Inherited renal tubule insufficiency with cholestatic jaundice

Intestinal enteropeptidase deficiency

Intestinal epithelial dysplasia

Intestinal epithelial dysplasia

Intestinal lipofuscinosis

Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency

Isolated neonatal sclerosing cholangitis

Isolated polycystic liver disease

Joubert syndrome with congenital hepatic fibrosis

Joubert syndrome with orofaciodigital defect

Juvenile polyposis syndrome3

Kapur Toriello syndrome

Karandikar Maria Kamble syndrome

Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

Lowry Yong syndrome

Lymphedema, posterior choanal atresia syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Median nodule of upper lip

Megacystis, microcolon, hypoperistalsis syndrome

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Microbrachycephaly, ptosis, cleft lip syndrome

Mitochondrial DNA depletion syndrome hepatocerebrorenal form

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Mowat-Wilson syndrome1

Moyamoya disease with early onset achalasia

Mucopolysaccharidosis, MPS-II2

Multiple gastrointestinal atresias

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Navajo neurohepatopathy

Neonatal inflammatory skin and bowel disease

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

Non-hypoproteinemic hypertrophic gastropathy

North American Indian childhood cirrhosis

NPHP3-related Meckel-like syndrome

Oculogastrointestinal muscular dystrophy

Oculogastrointestinal muscular dystrophy

Oculopharyngeal muscular dystrophy

Oculopharyngodistal myopathy

Oro-facial digital syndrome type 14

Oro-facial digital syndrome type 5

Oro-facial digital syndrome type 8

Oro-facial digital syndrome type 9

Orofacial-digital syndrome III

Orofacial-digital syndrome IV

Pancreatic colipase deficiency

Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome

Pancreatic triacylglycerol lipase deficiency

Papillon-Lefèvre syndrome

Partial pancreatic agenesis

Periodic fever, infantile enterocolitis, autoinflammatory syndrome

Periodontitis co-occurrent with genetic disorder2

Peutz-Jeghers syndrome1

Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction

Progressive intrahepatic cholestasis3

Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

Renal hepatic pancreatic dysplasia

Retinohepatoendocrinologic syndrome

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

Shwachman syndrome

Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

Sucrase-isomaltase deficiency

Sucrase-isomaltase deficiency

Syndromic congenital sodium diarrhea

Synthetic defect of bile acids10

Total intestinal aganglionosis

Transient infantile hypertriglyceridemia and hepatosteatosis

Tremor, nystagmus, duodenal ulcer syndrome

Trichohepatoenteric syndrome

Tungland Bellman syndrome

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

Waardenburg Shah syndrome

White sponge nevus

Wilson's disease2

Wilson's disease2

X-linked cleft palate and ankyloglossia

X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome

XY type gonadal dysgenesis with associated anomalies syndrome

Zlotogora Ogur syndrome