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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

342 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digestive system hereditary disorder est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Digestive system hereditary disorder est un(e) (attribut) maladie de l'appareil digestif true Inferred relationship Some
Digestive system hereditary disorder localisation d'une constatation (attribut) système digestif true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Steatocystoma multiplex with natal tooth syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Congenital bile acid synthesis defect type 3 (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
néoplasie endocrine multiple de type 1 est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
hyperinsulinisme induit par l'effort est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism and hyperammonemia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Partial agenesis of pancreas (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome de maladie de Hirschsprung-brachydactylie type D est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Joubert syndrome with congenital hepatic fibrosis (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Kapur Toriello syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Median nodule of upper lip (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Ackerman syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial hypercholanemia (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Native American myopathy est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Retinohepatoendocrinologic syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease type IX (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Weaver Williams syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Stimmler syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
dysplasie ectodermique tricho-odonto-onychiale est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Chronic diarrhea with villous atrophy syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Hereditary coproporphyria est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Joubert syndrome with orofaciodigital defect (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
syndrome oro-facio-digital type 5 est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Renal hepatic pancreatic dysplasia (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Focal palmoplantar and gingival keratoderma est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Trichoodontoonychial dysplasia est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
X-linked cleft palate and ankyloglossia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
dysplasie pilo-dentaire est un(e) (attribut) False Digestive system hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome est un(e) (attribut) True Digestive system hereditary disorder Inferred relationship Some

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