736652002: Neonatal metabolic disorder (disorder)

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

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)

\Disease\Fetal and/or neonatal disorder\Neonatal disorder\Neonatal metabolic disorder (disorder)
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3521329011 Neonatal metabolic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3521330018 Neonatal metabolic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal metabolic disorder (disorder)	Is a	Neonatal disorder	true	Inferred relationship	Some
Neonatal metabolic disorder (disorder)	Is a	Metabolic disease	true	Inferred relationship	Some
Neonatal metabolic disorder (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal hemochromatosis	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Transitory neonatal electrolyte disturbance	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal iminoglycinuria	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal cystine-lysinuria	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hypermethioninemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hypoglycemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Benign neonatal hyperaminoaciduria	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal dehydration	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hyperhistidinemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hypomagnesemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal respiratory alkalosis	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Disturbances of sodium balance of newborn	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Disturbances of potassium balance of newborn	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hypocalcaemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hyperglycemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Idiopathic transient neonatal hyperinsulinaemia	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal nephrocalcinosis	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Congenital uraemia	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal overhydration	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal rickets	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal hyperbilirubinemia	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Hypoxemia in newborn (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Metabolic bone disease of prematurity (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal acidosis (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal metabolic acidemia (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Syndrome of infant of mother with gestational diabetes	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal thyrotoxicosis	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal iron overload	Is a	True	Neonatal metabolic disorder (disorder)	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	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Transitory metabolic disturbance in infant of pre-diabetic mother	Is a	False	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal jaundice with porphyria	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	Is a	True	Neonatal metabolic disorder (disorder)	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	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Neonatal transient metabolic disturbance (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	Is a	True	Neonatal metabolic disorder (disorder)	Inferred relationship	Some
Glucose-galactose malabsorption (disorder)	Is a	True	Neonatal metabolic disorder (disorder)	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	Neonatal metabolic disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3521329011	Neonatal metabolic disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3521330018	Neonatal metabolic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core