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Terminology chevron_right Concepts chevron_right 360364008

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Component

360364008

The component that hold information about this concept.

Fully Specified Name (FSN)

Propionyl-coa carboxylase deficiency (disorder)

Shortest Term

Propionic acidemia, type i

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

Propionyl-coa carboxylase deficiency (disorder)

SCTID: 360364008, Primitive, Inactive

360364008|Propionyl-coa carboxylase deficiency (disorder)|

en Hyperglycinaemia with ketosis and leucopenia, types i and ii
en Hyperglycinemia with ketosis and leukopenia, types i and ii
en Ketotic glycinaemia, types i and ii
en Ketotic glycinemia, types i and ii
en Propionic acidaemia, type i
en Propionic acidaemia, type ii
en Propionic acidemia, type i
en Propionic acidemia, type ii
en Hyperglycinaemia with ketosis and leucopenia, types i and/or ii
en Hyperglycinemia with ketosis and leukopenia, types i and/or ii
en Pcc - propionyl-coa carboxylase deficiency
en Propionyl-coa carboxylase deficiency
en Propionyl-coa carboxylase deficiency (disorder)

Expression

360364008 |Propionyl-coa carboxylase deficiency (disorder)|
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Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1216458015 - Hyperglycinaemia with ketosis and leucopenia, types I and II (en) View
1216458015	en	Synonym (core metadata concept)	Hyperglycinaemia with ketosis and leucopenia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1217945017 - Hyperglycinemia with ketosis and leukopenia, types I and II (en) View
1217945017	en	Synonym (core metadata concept)	Hyperglycinemia with ketosis and leukopenia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1216456016 - Ketotic glycinaemia, types I and II (en) View
1216456016	en	Synonym (core metadata concept)	Ketotic glycinaemia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1217948015 - Ketotic glycinemia, types I and II (en) View
1217948015	en	Synonym (core metadata concept)	Ketotic glycinemia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1216455017 - Propionic acidaemia, type I (en) View
1216455017	en	Synonym (core metadata concept)	Propionic acidaemia, type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1216457013 - Propionic acidaemia, type II (en) View
1216457013	en	Synonym (core metadata concept)	Propionic acidaemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1217946016 - Propionic acidemia, type I (en) View
1217946016	en	Synonym (core metadata concept)	Propionic acidemia, type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1217947013 - Propionic acidemia, type II (en) View
1217947013	en	Synonym (core metadata concept)	Propionic acidemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
476083018 - Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II (en) View
476083018	en	Synonym (core metadata concept)	Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
476081016 - Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II (en) View
476081016	en	Synonym (core metadata concept)	Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
476080015 - PCC - Propionyl-CoA carboxylase deficiency (en) View
476080015	en	Synonym (core metadata concept)	PCC - Propionyl-CoA carboxylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
476082011 - Propionyl-CoA carboxylase deficiency (en) View
476082011	en	Synonym (core metadata concept)	Propionyl-CoA carboxylase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
740018011 - Propionyl-CoA carboxylase deficiency (disorder) (en) View
740018011	en	Fully specified name (core metadata concept)	Propionyl-CoA carboxylase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (168136020) - 360364008 -> 116020001 (116680003) View
116680003 \|Is a (attribute)\|	116020001 \|Disorder of branched-chain amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (703058022) - 360364008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (703059025) - 360364008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1669069028) - 360364008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1669070027) - 360364008 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (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

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