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
Congenital chalasia of esophagus (disorder)	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Congenital diverticulitis of small intestine (disorder)	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Mottled teeth, congenital	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Hutchinson's teeth	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome characterised by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminaemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycaemia.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Aberrant retro-esophageal subclavian artery causing dysphagia	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Congenital teratoma of nasopharynx (disorder)	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Moon's molar teeth	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Mulberry molar teeth	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Hereditary hemorrhagic telangiectasia of gingiva	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare subtype of haemochromatosis characterised 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 haemochromatosis is not enough to fully explain the clinical picture of the patient.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.	Is a	True	Disorder of digestive system specific to fetus OR newborn	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	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)