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363080007: Digestive system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482215018 Digestive system hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754864016 Digestive system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

348 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 true Inferred relationship Existential restriction modifier
Digestive system hereditary disorder Is a Disorder of digestive system true Inferred relationship Existential restriction modifier
Digestive system hereditary disorder Finding site Structure of digestive system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Steatocystoma multiplex with natal tooth syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Lethal omphalocele with cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital bile acid synthesis defect type 3 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Haim Munk syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia, type 1 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Exercise-induced hyperinsulinism Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to deficiency of glucokinase Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism and hyperammonemia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Partial agenesis of pancreas Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Acro-dermato-ungual-lacrimal-tooth syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cystic fibrosis with gastritis and megaloblastic anemia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cutaneous photosensitivity and lethal colitis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, enamel hypoplasia, nail defect syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with type D brachydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to insulin receptor deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Bilateral microtia with deafness and cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Joubert syndrome with congenital hepatic fibrosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Chronic atrial and intestinal dysrhythmia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism with microtia and facial clefting syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Kapur Toriello syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Median nodule of upper lip Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculopalatocerebral syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Odonto-tricho-ungual-digito-palmar syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Odontoleukodystrophy Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Bamforth Lazarus syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculogastrointestinal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ackerman syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Paraganglioma and gastric stromal sarcoma syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial hypercholanemia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Native American myopathy Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Retinohepatoendocrinologic syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease type IX Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Weaver Williams syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip retinopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia trichoodontoonychial type Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Chronic diarrhea with villous atrophy syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary coproporphyria Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oculopharyngodistal myopathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 9 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Joubert syndrome with orofaciodigital defect Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 5 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 8 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 1 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Renal hepatic pancreatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Focal palmoplantar and gingival keratoderma Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Trichoodontoonychial dysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked cleft palate and ankyloglossia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Otopalatodigital syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Familial omphalocele syndrome with facial dysmorphism Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Dentin dysplasia with sclerotic bone syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Pilodental dysplasia, refractive errors syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier

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