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

\Disorder of foetus and/or newborn\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)\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

71637011 Inborn error of amino acid metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

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 (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inborn error of amino acid metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inborn error of amino acid metabolism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inborn error of amino acid metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inborn error of amino acid metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Benign neonatal hyperaminoaciduria	Is a	False	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disorder with characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21.	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Cystathioninuria	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets