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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
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperbiliverdinaemia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
XTE syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Non-hypoproteinemic hypertrophic gastropathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal inflammatory skin and bowel disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoinsulinemic hypoglycaemia and body hemihypertrophy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nephrocystin 3-related Meckel-like syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acute infantile liver failure with multisystemic involvement syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary splenic hypoplasia Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tremor, nystagmus, duodenal ulcer syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gastrocutaneous syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Harlequin ichthyosis Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Holzgreve syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Navajo neurohepatopathy Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary mixed polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial porphyria cutanea tarda (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disturbances in tooth structure Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Total intestinal aganglionosis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrotic X-linked ectodermal dysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megacystis, microcolon, hypoperistalsis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dermo-odonto dysplasia (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Book syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis with meconium ileus Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis of pancreas Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis-oedema syndrome, Norwegian type Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta - Shield's type II Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign intrahepatic cholestasis type 1 Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic liver disease Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital secretory diarrhoea, chloride type Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of tooth Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mohr syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome III Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome IV Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay, intellectual disability, hepatopathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemorrhagic telangiectasia of gingiva Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fever-associated acute infantile liver failure syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditärer neuroendokriner Tumor des Dünndarms Is a False Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic congenital sodium diarrhea Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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