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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
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ferritin heavy chain 1-related iron overload (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skin disease characterised by generalised skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis). Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-galactose malabsorption (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a True Digestive system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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