15307001: holocarboxylase-synthetasedeficiëntie (aandoening)

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
742088012 Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) en Fully specified name Inactive Only initial character 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
340421000146111 holocarboxylase-synthetasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
340431000146113 holocarboxylase-synthetasedeficiëntie (aandoening) nl Fully specified name 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
holocarboxylase-synthetasedeficiëntie	Is a	Propionic acidemia	false	Inferred relationship	Some
holocarboxylase-synthetasedeficiëntie	Is a	Inborn error of metabolism	false	Inferred relationship	Some
holocarboxylase-synthetasedeficiëntie	Is a	Enzymopathy	false	Inferred relationship	Some
holocarboxylase-synthetasedeficiëntie	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
holocarboxylase-synthetasedeficiëntie	Finding site	Body system structure	false	Inferred relationship	Some
holocarboxylase-synthetasedeficiëntie	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple carboxylase deficiency - neonatal onset	Is a	False	holocarboxylase-synthetasedeficiëntie	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)