86095007: Inborn error of metabolism (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism

Status: current, Not 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
Inborn error of metabolism	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Inborn error of metabolism	Is a	Congenital disease	true	Inferred relationship	Some
Inborn error of metabolism	Is a	Metabolic disease	false	Inferred relationship	Some
Inborn error of metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inborn error of metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Inborn error of metabolism	Is a	Hereditary disease	false	Inferred relationship	Some
Inborn error of metabolism	Is a	Hereditary metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial renal iminoglycinuria	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Classical phenylketonuria	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Gamma-glutamyl transpeptidase deficiency	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Biotinidase deficiency	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Inborn errors of metabolism screen (procedure)	Has focus	True	Inborn error of metabolism	Inferred relationship	Some	2
Gout screening	Has focus	False	Inborn error of metabolism	Inferred relationship	Some
Essential pentosuria	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Inborn error of metabolism diet education (procedure)	Has focus	True	Inborn error of metabolism	Inferred relationship	Some	2
Amino acid metabolism disorder diet education (procedure)	Has focus	True	Inborn error of metabolism	Inferred relationship	Some	3
Carnitine deficiency due to inborn error of metabolism (disorder)	Due to	True	Inborn error of metabolism	Inferred relationship	Some	1
Lysosomal acid lipase deficiency	Is a	False	Inborn error of metabolism	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	False	Inborn error of metabolism	Inferred relationship	Some
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	Is a	False	Inborn error of metabolism	Inferred relationship	Some
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	False	Inborn error of metabolism	Inferred relationship	Some
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	False	Inborn error of metabolism	Inferred relationship	Some
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypo-pigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.	Is a	False	Inborn error of metabolism	Inferred relationship	Some
A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Dyshormonogenic goitre	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Synthetic defect of bile acids	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare disorder of ketone body transport characterised by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycaemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare inborn error of metabolism characterised by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odour in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Chorea due to inborn error of metabolism (disorder)	Due to	True	Inborn error of metabolism	Inferred relationship	Some	2
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.	Is a	True	Inborn error of metabolism	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	Inborn error of metabolism	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait.	Is a	True	Inborn error of metabolism	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	Inborn error of metabolism	Inferred relationship	Some
Glucose-galactose malabsorption (disorder)	Is a	True	Inborn error of metabolism	Inferred relationship	Some
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients.	Is a	True	Inborn error of metabolism	Inferred relationship	Some
Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)	Due to	True	Inborn error of metabolism	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
142765013	Inborn error of metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828286015	Inborn error of metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235095013	IBEM - Inborn error of metabolism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1235096014	IEM - Inborn error of metabolism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
161091000077112	erreur innée du métabolisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module