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

Status: retired, Primitive. Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1784748017 Multiple carboxylase deficiency, neonatal onset en Synonym Active Case insensitive SNOMED CT core

25966019 Biotin-(propionyl-CoA-carboxylase) ligase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

25967011 Neonatal multiple carboxylase deficiency en Synonym Active Case insensitive SNOMED CT core

25968018 Neonatal biotin-responsive multiple carboxylase deficiency en Synonym Active Case insensitive SNOMED CT core

25969014 Holocarboxylase synthetase deficiency en Synonym Active Case insensitive SNOMED CT core

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

2971270010 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biotin-(propionyl-CoA-carboxylase) ligase deficiency	Is a	Propionic acidaemia	false	Inferred relationship	Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Biotin-(propionyl-CoA-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-CoA-carboxylase) ligase deficiency	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Id	Description	Lang	Type	Status	Case?	Module
1784748017	Multiple carboxylase deficiency, neonatal onset	en	Synonym	Active	Case insensitive	SNOMED CT core
25966019	Biotin-(propionyl-CoA-carboxylase) ligase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
25967011	Neonatal multiple carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
25968018	Neonatal biotin-responsive multiple carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
25969014	Holocarboxylase synthetase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2971231016	Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2971270010	Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core