62522004: congenitale hyperammoniëmie type I (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

103912015 Congenital hyperammonemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

103914019 CPS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

103915018 CPS I deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

199104019 Carbamoylphosphate synthetase I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

199105018 Carbamoyl-phosphate synthethase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

499317014 Congenital hyperammonaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

801704018 Congenital hyperammonemia, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232343019 Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1232344013 CPS - Carbamoyl-phosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2349751000146119 congenitale hyperammoniëmie type I (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2349761000146116 congenitale hyperammoniëmie type I nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale hyperammoniëmie type I (aandoening)	Is a	Enzymopathy	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Is a	Hyperammonemia	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Finding site	Body system structure	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Is a	Mitochondrial cytopathy (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)