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

SNOMED CT Concept\Clinical finding (finding)\...

\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn

\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn

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

Descriptions:

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	Perinatalperiode	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	Disorder of foetus and/or newborn	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 chloridoré	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
Hæmaternese OG/ELLER melaena forårsaget af synkning af blod fra moder	Is a	False	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Necrotizing enterocolitis in fetus 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	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Anden mekoniumobstruktion	Is a	False	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
andre perinatale sygdomme i fordøjelsessystemet	Is a	False	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
anden perinatal sygdom i fordøjelsessystemet, ikke nærmere specificeret	Is a	False	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
perinatale sygdomme i fordøjelsessystemet, ikke nærmere specificeret	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
mekoniumobstruktion, ikke nærmere specificeret	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 hematoma 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 melaena	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
A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13.	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	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
XTE syndrome	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 (disorder)	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	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
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
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. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene.	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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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
1905571000005114	Sygdom i fordøjelsessystemet specifik for foster ELLER nyfødt	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)