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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
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 true Inferred relationship Some
Digestive system hereditary disorder Is a Disorder of digestive system (disorder) true Inferred relationship Some
Digestive system hereditary disorder Finding site Structure of digestive system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital pancreatic enterokinase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Familial hypodontia Is a False Digestive system hereditary disorder Inferred relationship Some
Dentin dysplasia, type II Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary gingival fibromatosis Is a True Digestive system hereditary disorder Inferred relationship Some
Ichthyosis congenita with biliary atresia Is a True Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Digestive system hereditary disorder Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Digestive system hereditary disorder Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying Is a False Digestive system hereditary disorder Inferred relationship Some
Cross syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Familial visceral neuropathy Is a True Digestive system hereditary disorder Inferred relationship Some
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa. Is a True Digestive system hereditary disorder Inferred relationship Some
Gilbert's syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Intestinal lipofuscinosis Is a False Digestive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease Is a False Digestive system hereditary disorder Inferred relationship Some
Alpha-1-antitrypsin deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Benign recurrent intrahepatic cholestasis Is a True Digestive system hereditary disorder Inferred relationship Some
Rotor syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary hemochromatosis Is a False Digestive system hereditary disorder Inferred relationship Some
Hartnup disorder, renal/jejunal type Is a False Digestive system hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Periodontal Ehlers-Danlos syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Some
Cherubism Is a False Digestive system hereditary disorder Inferred relationship Some
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Congenital lactase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Peutz-Jeghers syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatic porphyria Is a False Digestive system hereditary disorder Inferred relationship Some
Intestinal enteropeptidase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency Is a False Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Digestive system hereditary disorder Inferred relationship Some
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. Is a True Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a False Digestive system hereditary disorder Inferred relationship Some
Hereditary pancreatitis Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Digestive system hereditary disorder Inferred relationship Some
Pancreatic colipase deficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a True Digestive system hereditary disorder Inferred relationship Some
Familial multiple polyposis syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Is a True Digestive system hereditary disorder Inferred relationship Some
Normopepsinogenemic familial duodenal ulcer Is a False Digestive system hereditary disorder Inferred relationship Some
Oculopharyngeal muscular dystrophy (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
White sponge nevus of mucosa Is a False Digestive system hereditary disorder Inferred relationship Some
Wilson's disease Is a True Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Is a False Digestive system hereditary disorder Inferred relationship Some
Glucocorticoid deficiency with achalasia Is a True Digestive system hereditary disorder Inferred relationship Some
White sponge nevus of mucosa (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogen synthase deficiency Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogen storage disease, hepatic form Is a True Digestive system hereditary disorder Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Digestive system hereditary disorder Inferred relationship Some
Rotor syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Dubin-Johnson syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Cleidocranial dysostosis Is a False Digestive system hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a True Digestive system hereditary disorder Inferred relationship Some
Familial chronic pancreatitis Is a False Digestive system hereditary disorder Inferred relationship Some
Nance-Horan syndrome (disorder) Is a False Digestive system hereditary disorder Inferred relationship Some
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. Is a False Digestive system hereditary disorder Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a False Digestive system hereditary disorder Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Cowden syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. Is a True Digestive system hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia Is a True Digestive system hereditary disorder Inferred relationship Some
Shwachman syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Familial nonpolyposis colorectal cancer Is a False Digestive system hereditary disorder Inferred relationship Some
Amelogenesis imperfecta Is a False Digestive system hereditary disorder Inferred relationship Some
Anodontia Is a False Digestive system hereditary disorder Inferred relationship Some
atrésies gastro-intestinales multiples Is a False Digestive system hereditary disorder Inferred relationship Some
Trichohepatoenteric syndrome Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary mucoepithelial dysplasia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Periodontitis co-occurrent with genetic disorder (disorder) Is a True Digestive system hereditary disorder Inferred relationship Some
Cholestanol storage disease Is a False Digestive system hereditary disorder Inferred relationship Some
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. Is a False Digestive system hereditary disorder Inferred relationship Some
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Is a True Digestive system hereditary disorder Inferred relationship Some
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Is a True Digestive system hereditary disorder Inferred relationship Some
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Digestive system hereditary disorder Inferred relationship Some
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Is a False Digestive system hereditary disorder Inferred relationship Some
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Is a False Digestive system hereditary disorder Inferred relationship Some
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Is a True Digestive system hereditary disorder Inferred relationship Some
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a True Digestive system hereditary disorder Inferred relationship Some
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Is a True Digestive system hereditary disorder Inferred relationship Some
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Is a False Digestive system hereditary disorder Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a True Digestive system hereditary disorder Inferred relationship Some
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. Is a True Digestive system hereditary disorder Inferred relationship Some
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. Is a True Digestive system hereditary disorder Inferred relationship Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Digestive system hereditary disorder Inferred relationship Some
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Is a True Digestive system hereditary disorder Inferred relationship Some
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Is a True Digestive system hereditary disorder Inferred relationship Some
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Is a True Digestive system hereditary disorder Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a False Digestive system hereditary disorder Inferred relationship Some
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Is a True Digestive system hereditary disorder Inferred relationship Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a False Digestive system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Is a False Digestive system hereditary disorder Inferred relationship Some

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