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86095007: Inborn error of metabolism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
142765013 Inborn error of metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character case insensitive (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
161091000077112 erreur innée du métabolisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

703 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inborn error of metabolism Is a Hereditary disorder by system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Metabolic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inborn error of metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a Hereditary metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial renal iminoglycinuria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Classical phenylketonuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Gamma-glutamyl transpeptidase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Ornithine carbamoyltransferase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Isovaleryl-CoA dehydrogenase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Biotinidase deficiency (disorder) Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Erythropoietic protoporphyria Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of bilirubin metabolism Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn errors of metabolism screen Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept) 2
Gout screening Has focus False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Essential pentosuria (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism diet education (procedure) Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept) 2
Amino acid metabolism disorder diet education Has focus True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept) 3
Carnitine deficiency due to inborn error of metabolism (disorder) Due to True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept) 1
Lysosomal acid lipase deficiency Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Ethylmalonic encephalopathy (disorder) Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary combined deficiency of vitamin K-dependent clotting factors Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypercarotenemia and vitamin A deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxine-dependent epilepsy (disorder) Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
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. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a False Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Lipoyl transferase 1 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy without intellectual disability (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Dyshormonogenic goiter Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Multiple carboxylase deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of galactose mutarotase Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Ketoacidosis due to monocarboxylate transporter-1 deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Heme oxygenase-1 deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
A rare inborn error of amino acid metabolism with characteristics of 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. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Severe primary trimethylaminuria (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to inborn error of metabolism (disorder) Due to True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept) 2
Lipoyl transferase 2 deficiency Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive extra-oral halitosis Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised 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 Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Hyperinsulinism and hyperammonaemia syndrome Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary butyrylcholinesterase deficiency (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
A rare subtype of hemochromatosis characterized 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 hemochromatosis is not enough to fully explain the clinical picture of the patient. Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-galactose malabsorption (disorder) Is a True Inborn error of metabolism Inferred relationship Existential restriction modifier (core metadata concept)

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