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
103913013 Carbomyl-phosphate synthethase deficiency en Synonym (core metadata concept) Inactive 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
789711000052110 medfödd hyperammonemi typ 1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
medfödd hyperammonemi typ 1	Is a	Enzymopathy	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	Is a	Hyperammonemia	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	Finding site	Body system structure	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	Occurrence	Congenital	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	Is a	Inborn error of metabolism	false	Inferred relationship	Some
medfödd hyperammonemi typ 1	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)