62522004: Congenital hyperammonemia, type I (disorder)

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hyperammonemia, type I	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Congenital hyperammonemia, type I	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Congenital hyperammonemia, type I	est un(e) (attribut)	Hyperammonemia	false	Inferred relationship	Some
Congenital hyperammonemia, type I	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Congenital hyperammonemia, type I	est un(e) (attribut)	Mitochondrial cytopathy	false	Inferred relationship	Some
Congenital hyperammonemia, type I	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Congenital hyperammonemia, type I	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Concept inactivation indicator reference set

Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)