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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
482215018 Digestive system hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6064221000241114 affection héréditaire de l'appareil digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064231000241111 affection héréditaire du système digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064221000241114 affection héréditaire de l'appareil digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6064231000241111 affection héréditaire du système digestif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

358 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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digestive system hereditary disorder Is a Disease of digestive system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Digestive system hereditary disorder Finding site Structure of digestive system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Inferred relationship Existential restriction modifier (core metadata concept)
Steatocystoma multiplex with natal tooth syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus cleft palate syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 1 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Exercise-induced hyperinsulinism (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to HNF4A deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to deficiency of glucokinase Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism and hyperammonaemia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of pancreas (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to insulin receptor deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with congenital hepatic fibrosis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic atrial and intestinal dysrhythmia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kapur Toriello syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Median nodule of upper lip (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bamforth Lazarus syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ackerman syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypercholanemia (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinohepatoendocrinologic syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip retinopathy syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coproporphyria Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngodistal myopathy (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with orofaciodigital defect Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 5 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 8 Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 1 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 14 (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Renal hepatic pancreatic dysplasia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Focal palmoplantar and gingival keratoderma (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial omphalocele syndrome with facial dysmorphism (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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