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Terminology chevron_right Concepts chevron_right 15307001

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Component

15307001

The component that hold information about this concept.

Fully Specified Name (FSN)

Biotin-(propionyl-coa-carboxylase) ligase deficiency (disorder)

Shortest Term

Holocarboxylase synthetase deficiency

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Biotin-(propionyl-coa-carboxylase) ligase deficiency (disorder)

SCTID: 15307001, Primitive, Inactive

15307001|Biotin-(propionyl-coa-carboxylase) ligase deficiency (disorder)|

en Holocarboxylase synthetase deficiency
en Multiple carboxylase deficiency, neonatal onset
en Neonatal biotin-responsive multiple carboxylase deficiency
en Neonatal multiple carboxylase deficiency
en Biotin-(propionyl-coenzyme a-carboxylase) ligase deficiency
en Biotin-(propionyl-coenzyme a-carboxylase) ligase deficiency (disorder)
en Biotin-(propionyl-coa-carboxylase) ligase deficiency

Expression

15307001 |Biotin-(propionyl-coa-carboxylase) ligase deficiency (disorder)|
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Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
25969014 - Holocarboxylase synthetase deficiency (en) View
25969014	en	Synonym (core metadata concept)	Holocarboxylase synthetase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1784748017 - Multiple carboxylase deficiency, neonatal onset (en) View
1784748017	en	Synonym (core metadata concept)	Multiple carboxylase deficiency, neonatal onset	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
25968018 - Neonatal biotin-responsive multiple carboxylase deficiency (en) View
25968018	en	Synonym (core metadata concept)	Neonatal biotin-responsive multiple carboxylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
25967011 - Neonatal multiple carboxylase deficiency (en) View
25967011	en	Synonym (core metadata concept)	Neonatal multiple carboxylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
742088012 - Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) (en) View
742088012	en	Fully specified name (core metadata concept)	Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971231016 - Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (en) View
2971231016	en	Synonym (core metadata concept)	Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2971270010 - Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) (en) View
2971270010	en	Fully specified name (core metadata concept)	Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
25966019 - Biotin-(propionyl-CoA-carboxylase) ligase deficiency (en) View
25966019	en	Synonym (core metadata concept)	Biotin-(propionyl-CoA-carboxylase) ligase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (170925025) - 15307001 -> 69080001 (116680003) View
116680003 \|Is a (attribute)\|	69080001 \|Propionic acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (707505023) - 15307001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (707504022) - 15307001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170926029) - 15307001 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170927022) - 15307001 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170928028) - 15307001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c7d50e61-7b0d-5f2a-8741-c62b62f01956) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.1	TRUE	ALWAYS E71.1	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (170925025) - 15307001 -> 69080001 (116680003) View
116680003 \|Is a (attribute)\|	69080001 \|Propionic acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (707505023) - 15307001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (707504022) - 15307001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170926029) - 15307001 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170927022) - 15307001 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (170928028) - 15307001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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