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42357009: Disorder of digestive system specific to fetus OR newborn (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
70677011 Disorder of digestive system specific to fetus OR newborn en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
70680012 Perinatal disorder of digestive system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
779247013 Disorder of digestive system specific to fetus OR newborn (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1229853015 Perinatal digestive system disorders en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3010701014 Disorder of digestive system specific to foetus OR newborn en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1066 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of digestive system specific to fetus OR newborn Is a Perinatal disorder false Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Is a Disorder of digestive system (disorder) true Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Occurrence Perinatal state false Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Finding site Digestive system subdivision false Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Occurrence Perinatal period false Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Finding site Structure of digestive system (body structure) true Inferred relationship Some 2
Disorder of digestive system specific to fetus OR newborn Is a Fetal and/or neonatal disorder true Inferred relationship Some
Disorder of digestive system specific to fetus OR newborn Occurrence Fetal or neonatal period false Inferred relationship Some 1
Disorder of digestive system specific to fetus OR newborn Occurrence Fetal and/or neonatal period true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Neonatal diarrhoea Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal intestinal obstruction Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Transient neonatal colitis Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal chloridorrhea Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Peptic ulcer of newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Chylous ascites of newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Gastritis of newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Newborn ingestion of maternal blood Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal disorders of liver and/or biliary system (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Hematemesis AND/OR melena due to swallowed maternal blood Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Necrotising enterocolitis in foetus OR newborn Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital fecaliths Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Vomiting in newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Meconium peritonitis Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal intestinal perforation Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Transitory ileus of newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital fecaliths causing obstruction (disorder) Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Other meconium obstruction Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Other perinatal digestive system disorders Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Other perinatal digestive system disorder NOS Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal digestive system disorders NOS Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
[X]Digestive system disorders of fetus and newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
[X]Other specified perinatal digestive system disorders Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Meconium obstruction NOS Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Intestinal obstruction by inspissated milk in newborn Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal intestinal obstruction Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal enamel hypoplasia Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal mass of hypopharynx (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Liver subcapsular haematoma due to birth trauma Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal hepatosplenomegaly Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal melena Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Fetal intrauterine perforation of intestine (disorder) Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal oral candidiasis Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal melena Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A tooth which erupts after birth in the neonatal period. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Idiopathic transient neonatal hyperinsulinaemia Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Fetal intrauterine perforation of stomach (disorder) Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal disorder of oral mucosa Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Cholestasis in newborn (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal gastrointestinal disorder Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal hepatocellular damage Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal hepatitis Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal hemorrhage of liver (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Neonatal hypotonia of hypopharynx (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal gastrointestinal hemorrhage Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Fetal gastrointestinal abnormality Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Fetal cleft lip (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Injury of liver due to birth trauma (disorder) Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Harlequin fetus Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage. Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Perinatal necrotizing enterocolitis (disorder) Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Mesenteric pregnancy Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Pancreatic colipase deficiency (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital anomaly of digestive system Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Alstrom syndrome Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Shwachman syndrome Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Intestinal enteropeptidase deficiency Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Periodontal Ehlers-Danlos syndrome (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Peutz-Jeghers syndrome Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Alpha-1-antitrypsin deficiency Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Rotor syndrome Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital secretory diarrhea Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Intestinal lipofuscinosis Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Glycogen storage disease, hepatic form Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Xeroderma, talipes and enamel defect syndrome (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Persistent tuberculum impar Is a False Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Crigler-Najjar syndrome, type I Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Glycogen storage disease type IX (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Synthetic defect of bile acids Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Glycogen synthase deficiency Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital pyloric spasm Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital palato-oesophageal incoordination Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital functional disorders of the small intestine Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital functional disorders of the colon Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital viral hepatitis Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital monosaccharide malabsorption Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital atrophy of left lobe of liver Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital disorder of gallbladder and biliary tract Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital achalasia of esophagus Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital velopharyngeal dysfunction Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Omphalocele with obstruction Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Hepatomphalocele Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital hiatus hernia Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
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 Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital chronic diarrhoea with protein-losing enteropathy is a rare, genetic, intestinal disease characterised by early-onset, chronic, non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Monostotic fibrous dysplasia of periradicular alveolar bone Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Natal tooth Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Generalized congenital intestinal dysmotility (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some
Congenital chalasia of esophagus (disorder) Is a True Disorder of digestive system specific to fetus OR newborn Inferred relationship Some

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