Name: Digestive system hereditary disorder (disorder)
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- Digestive system hereditary disorder
- Digestive system hereditary disorder (disorder)
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Concept ID: 363080007- Digestive system hereditary disorder (disorder)
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ICD-10 Codes: #HLT
- Aase Smith type 1 syndrome
- Ablepharon macrostomia syndrome
- Abruzzo Erickson syndrome
- Achalasia microcephaly syndrome (disorder)
- Ackerman syndrome (disorder)
- Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)
- Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
- Alpha-1-antitrypsin deficiency
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder)
- + Amelogenesis imperfecta
- + Anodontia (disorder)
- Arteriohepatic dysplasia
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
- Bamforth Lazarus syndrome
- Beckwith-Wiedemann syndrome
- Bilateral microtia with deafness and cleft palate syndrome
- Boder syndrome
- Carney Stratakis syndrome
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
- + Cholestanol storage disease (disorder)
- Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)
- Chronic atrial and intestinal dysrhythmia
- Chronic diarrhea with villous atrophy syndrome (disorder)
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)
- Cleft lip retinopathy syndrome (disorder)
- Cleft palate with short stature and vertebral anomaly syndrome
- Cleft palate, large ears, small head syndrome
- Cleidocranial dysostosis
- Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)
- Congenital bile acid synthesis defect type 3
- Congenital lactase deficiency (disorder)
- Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
- Congenital pancreatic enterokinase deficiency
- Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)
- Cowden syndrome (disorder)
- Crigler-Najjar syndrome, type I (disorder)
- Cross syndrome (disorder)
- Cutaneous photosensitivity and lethal colitis syndrome (disorder)
- Cystic fibrosis with gastritis and megaloblastic anaemia syndrome
- Deafness, enamel hypoplasia, nail defect syndrome
- Deafness, small bowel diverticulosis, neuropathy syndrome
- Deafness, vitiligo, achalasia syndrome (disorder)
- Dentin dysplasia, type II
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
- Dubin-Johnson syndrome (disorder)
- Ectodermal dysplasia trichoodontoonychial type (disorder)
- Epidermolysis bullosa simplex with pyloric atresia
- Exercise-induced hyperinsulinism
- Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
- Familial hypercholanemia
- Familial median cleft of upper and lower lip
- + Familial multiple polyposis syndrome
- + Familial visceral neuropathy (disorder)
- Focal palmoplantar and gingival keratoderma
- Glucocorticoid deficiency with achalasia
- + Glycogen phosphorylase kinase deficiency
- + Glycogen storage disease, hepatic form
- + Glycogen synthase deficiency
- Glycogenosis with glucoaminophosphaturia
- Goldberg Shprintzen megacolon syndrome (disorder)
- Haim Munk syndrome
- Hepatic veno-occlusive disease with immunodeficiency syndrome
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Hereditary benign intraepithelial dyskeratosis
- + Hereditary coproporphyria (disorder)
- Hereditary diffuse carcinoma of stomach
- Hereditary gastrogenic lactose intolerance
- + Hereditary gingival fibromatosis (disorder)
- Hereditary hollow viscus myopathy (disorder)
- Hereditary mucoepithelial dysplasia (disorder)
- + Hereditary pancreatitis (disorder)
- 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 cancer
- Hyperinsulinism and hyperammonemia syndrome (disorder)
- Hyperinsulinism due to deficiency of glucokinase
- Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
- Hyperinsulinism due to HNF4A deficiency
- Hyperinsulinism due to insulin receptor deficiency (disorder)
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
- Hyperinsulinism due to uncoupling protein 2 deficiency
- Hypertelorism with microtia and facial clefting syndrome (disorder)
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder)
- Ichthyosis congenita with biliary atresia
- Intestinal enteropeptidase deficiency
- Intestinal epithelial dysplasia
- Intestinal lipofuscinosis
- Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder)
- Isolated polycystic liver disease (disorder)
- Joubert syndrome with congenital hepatic fibrosis (disorder)
- Joubert syndrome with orofaciodigital defect (disorder)
- Kapur Toriello syndrome (disorder)
- Lethal omphalocele with cleft palate syndrome
- Lowry Yong syndrome
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome
- Macular coloboma, cleft palate, hallux valgus syndrome (disorder)
- Median nodule of upper lip
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)
- Microbrachycephaly, ptosis, cleft lip syndrome
- Microcephalus cleft palate syndrome (disorder)
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)
- Mowat-Wilson syndrome (disorder)
- Moyamoya disease with early onset achalasia (disorder)
- + Mucopolysaccharidosis, MPS-II
- Multiple gastrointestinal atresias
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
- Nance-Horan syndrome
- Native American myopathy (disorder)
- Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
- North American Indian childhood cirrhosis
- Oculogastrointestinal muscular dystrophy (disorder)
- Oculopalatocerebral syndrome
- Oculopharyngeal muscular dystrophy (disorder)
- Oculopharyngodistal myopathy (disorder)
- Odontoleukodystrophy (disorder)
- Odonto-tricho-ungual-digito-palmar syndrome
- Ohdo syndrome, Maat-Kievit-Brunner type
- Oro-facial digital syndrome type 1 (disorder)
- Oro-facial digital syndrome type 14
- Oro-facial digital syndrome type 5
- Oro-facial digital syndrome type 8
- Oro-facial digital syndrome type 9 (disorder)
- + Otopalatodigital syndrome
- Pancreatic colipase deficiency (disorder)
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
- Pancreatic triacylglycerol lipase deficiency (disorder)
- Papillon-Lefèvre syndrome (disorder)
- Partial pancreatic agenesis
- + Periodontitis co-occurrent with genetic disorder
- + Peutz-Jeghers syndrome (disorder)
- Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome (disorder)
- Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)
- Reardon Hall Slaney syndrome
- Renal hepatic pancreatic dysplasia (disorder)
- Retinohepatoendocrinologic syndrome
- Rotor syndrome
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)
- Shprintzen Goldberg omphalocele syndrome
- Shwachman syndrome (disorder)
- Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
- Steatocystoma multiplex with natal tooth syndrome (disorder)
- Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)
- Sucrase-isomaltase deficiency
- Trichohepatoenteric syndrome (disorder)
- Trichoodontoonychial dysplasia (disorder)
- Tungland Bellman syndrome
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
- Waardenburg Shah syndrome
- Weaver Williams syndrome (disorder)
- White sponge nevus of mucosa (disorder)
- + Wilson's disease (disorder)
- X-linked cleft palate and ankyloglossia
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
- XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
- Zlotogora Ogur syndrome