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363080007: Digestive system hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Digestive system hereditary disorder Is a Disorder of digestive system true Inferred relationship Some
Digestive system hereditary disorder Finding site Structure of digestive system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Moyamoya disease with early onset achalasia Is a True Digestive system hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip Is a True Digestive system hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Abruzzo Erickson syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Aase Smith type 1 syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a False Digestive system hereditary disorder Inferred relationship Some
Steatocystoma multiplex with natal tooth syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Microcephaly cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Congenital bile acid synthesis defect type 3 Is a False Digestive system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Haim Munk syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a False Digestive system hereditary disorder Inferred relationship Some
Exercise-induced hyperinsulinism Is a True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to SUR1 deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to glucokinase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Partial pancreatic agenesis Is a True Digestive system hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anaemia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein Is a True Digestive system hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Odontochondrodysplasia Is a False Digestive system hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Joubert syndrome with hepatic defect Is a True Digestive system hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia Is a True Digestive system hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Kapur Toriello syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Median nodule of upper lip Is a True Digestive system hereditary disorder Inferred relationship Some
Oculo-palato-cerebral syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Odontoleukodystrophy Is a False Digestive system hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a True Digestive system hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Some
Ackerman syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Carney Stratakis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Familial hypercholanemia Is a False Digestive system hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Native American myopathy Is a False Digestive system hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Retinohepatoendocrinologic syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogen phosphorylase kinase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Weaver Williams syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Pfeiffer Palm Teller syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Cleft lip retinopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Stimmler syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type Is a False Digestive system hereditary disorder Inferred relationship Some
Chronic diarrhoea with villous atrophy syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary coproporphyria Is a True Digestive system hereditary disorder Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, intellectual disability and ECG abnormalities Is a False Digestive system hereditary disorder Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Digestive system hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Oculopharyngodistal myopathy Is a True Digestive system hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 9 Is a True Digestive system hereditary disorder Inferred relationship Some
Joubert syndrome with orofaciodigital defect Is a True Digestive system hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 5 Is a True Digestive system hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 8 Is a True Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 1 Is a False Digestive system hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Digestive system hereditary disorder Inferred relationship Some
Renal hepatic pancreatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Digestive system hereditary disorder Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a True Digestive system hereditary disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Trichoodontoonychial dysplasia Is a False Digestive system hereditary disorder Inferred relationship Some
X-linked cleft palate and ankyloglossia Is a True Digestive system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a False Digestive system hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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