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363080007: 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)

353 descendants. Search Descendants:

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

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