363080007: Digestive system hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\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)

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, alopecia, mental retardation and electrocardiographic abnormalities (disorder)	Is a	True	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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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)