42930003: Inborn error of amino acid metabolism (disorder)

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

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

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism

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

71637011 Inborn error of amino acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

71640011 Hyperaminoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

779885015 Inborn error of amino acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4529941000241110 erreur innée du métabolisme des acides aminés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inborn error of amino acid metabolism	Is a	Disorder of amino acid metabolism	false	Inferred relationship	Some
Inborn error of amino acid metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Inborn error of amino acid metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inborn error of amino acid metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some
Inborn error of amino acid metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Benign neonatal hyperaminoaciduria	Is a	False	Inborn error of amino acid metabolism	Inferred relationship	Some
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some

This concept is not in any reference sets