363080007: hereditaire aandoening van spijsverteringsstelsel (aandoening)

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:

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
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ectodermal dysplasia syndactyly syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hyperbiliverdinaemia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
XTE syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Postaxial polydactyly, dental, vertebral anomalies syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Craniosynostosis and dental anomalies syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Non-hypoproteinemic hypertrophic gastropathy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Acute infantile liver failure with multisystemic involvement syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary splenic hypoplasia	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Gastrocutaneous syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Harlequin ichthyosis	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Holzgreve syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Navajo neurohepatopathy	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary mixed polyposis syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Familial porphyria cutanea tarda	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
hereditaire verstoring van structuur van gebitselement	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Inherited renal tubule insufficiency with cholestatic jaundice	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Total intestinal aganglionosis (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypohidrotic X-linked ectodermal dysplasia	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Megacystis, microcolon, hypoperistalsis syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Dermatoosteolysis Kirghizian type (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Dermo-odonto dysplasia (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Oculoosteocutaneous syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Oculotrichodysplasia (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Book syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Stern Lubinsky Durrie syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Teebi Shaltout syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cystic fibrosis with meconium ileus	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cystic fibrosis of pancreas	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cholestasis-edema syndrome, Norwegian type	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Dentinogenesis imperfecta - Shield's type II	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Benign intrahepatic cholestasis type 1	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Autosomal dominant polycystic liver disease	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Juvenile polyposis syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital secretory diarrhea, chloride type	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Congenital palmoplantar and perioral keratoderma of Olmsted	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary disorder of tooth	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Synthetic defect of bile acids (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Mohr syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Combined immunodeficiency, enteropathy spectrum	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hereditary hemorrhagic telangiectasia of gingiva	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Lymphedema, posterior choanal atresia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Fever-associated acute infantile liver failure syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Nephronophthisis hepatic fibrosis syndrome (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
hereditair maligne neuro-endocrien neoplasma van dunne darm	Is a	False	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Syndromic congenital sodium diarrhoea	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some
Glucagon receptor-related hyperglucagonemia (disorder)	Is a	True	Digestive system hereditary disorder (disorder)	Inferred relationship	Some

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start

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
6471351000146112	hereditaire aandoening van spijsverteringsstelsel (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471361000146110	hereditaire aandoening van spijsverteringsstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471371000146116	erfelijke ziekte van maag-darmkanaal	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471381000146119	erfelijke aandoening van tractus digestivus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471391000146117	erfelijke aandoening van systema digestorium	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)