15307001: Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

25966019 Biotin-(propionyl-CoA-carboxylase) ligase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

25967011 Neonatal multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

25968018 Neonatal biotin-responsive multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

25969014 Holocarboxylase synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1784748017 Multiple carboxylase deficiency, neonatal onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971231016 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971270010 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (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
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Is a	Propionic acidemia	false	Inferred relationship	Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple carboxylase deficiency - neonatal onset	Is a	False	Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)