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42930003: Inborn error of amino acid metabolism (disorder)

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
71638018 Inborn error of amino acid metabolism, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
71639014 Hyperaminoaciduria, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
71640011 Hyperaminoaciduria en Synonym Active Case insensitive SNOMED CT core
779885015 Inborn error of amino acid metabolism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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	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
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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
Cystathioninuria	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some
Benign neonatal hyperaminoaciduria	Is a	False	Inborn error of amino acid metabolism	Inferred relationship	Some
Carbamoyl-phosphate synthetase 1 deficiency	Is a	True	Inborn error of amino acid metabolism	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Id	Description	Lang	Type	Status	Case?	Module
71637011	Inborn error of amino acid metabolism	en	Synonym	Active	Case insensitive	SNOMED CT core
71638018	Inborn error of amino acid metabolism, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
71639014	Hyperaminoaciduria, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
71640011	Hyperaminoaciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
779885015	Inborn error of amino acid metabolism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core