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Terminology chevron_right Concepts chevron_right 69080001

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Component

69080001

The component that hold information about this concept.

Fully Specified Name (FSN)

Propionic acidemia (disorder)

Shortest Term

Propionic aciduria

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

Propionic acidemia (disorder)

SCTID: 69080001, Primitive, Active

69080001|Propionic acidemia (disorder)|

en Propionic aciduria
en Hyperglycinaemia with ketosis and leucopenia
en Hyperglycinemia with ketosis and leukopenia
en Ketotic glycinaemia
en Ketotic glycinemia
en Ketotic hyperglycinaemia
en Ketotic hyperglycinemia
en Propionic acidaemia
en Propionic acidemia
en Propionic acidemia (disorder)
en Pcc - propionyl-coa carboxylase deficiency
en Propionyl-coa carboxylase deficiency

Expression

69080001 |Propionic acidemia (disorder)|
 <<< 86095007 |Inborn error of metabolism (disorder)| + 
84618009 |Disorder of propionate and/or methylmalonate metabolism (disorder)| + 
26513001 |Non-amino organic acidemia and/or aciduria (disorder)| + 
116020001 |Disorder of branched-chain amino acid metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
70731005 |Acidemia (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1783837014 - Hyperglycinaemia with ketosis and leucopenia, types I and II (en) View
1783837014	en	Synonym (core metadata concept)	Hyperglycinaemia with ketosis and leucopenia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1783836017 - Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II (en) View
1783836017	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	False
1784224013 - Hyperglycinemia with ketosis and leukopenia, types I and II (en) View
1784224013	en	Synonym (core metadata concept)	Hyperglycinemia with ketosis and leukopenia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1784225014 - Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II (en) View
1784225014	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	False
1783835018 - Ketotic glycinaemia, types I and II (en) View
1783835018	en	Synonym (core metadata concept)	Ketotic glycinaemia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
501181019 - Ketotic glycinaemia, types I AND/OR II (en) View
501181019	en	Synonym (core metadata concept)	Ketotic glycinaemia, types I AND/OR II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1784223019 - Ketotic glycinemia, types I and II (en) View
1784223019	en	Synonym (core metadata concept)	Ketotic glycinemia, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
501180018 - Ketotic glycinemia, types I AND/OR II (en) View
501180018	en	Synonym (core metadata concept)	Ketotic glycinemia, types I AND/OR II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
501183016 - Propionic acidaemia, type I AND/OR type II (en) View
501183016	en	Synonym (core metadata concept)	Propionic acidaemia, type I AND/OR type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
501179016 - Propionic acidemia, type I AND/OR type II (en) View
501179016	en	Synonym (core metadata concept)	Propionic acidemia, type I AND/OR type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
4553891013 - Propionic aciduria (en) View
4553891013	en	Synonym (core metadata concept)	Propionic aciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501186012 - Hyperglycinaemia with ketosis and leucopenia (en) View
501186012	en	Synonym (core metadata concept)	Hyperglycinaemia with ketosis and leucopenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501187015 - Hyperglycinemia with ketosis and leukopenia (en) View
501187015	en	Synonym (core metadata concept)	Hyperglycinemia with ketosis and leukopenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501184010 - Ketotic glycinaemia (en) View
501184010	en	Synonym (core metadata concept)	Ketotic glycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501188013 - Ketotic glycinemia (en) View
501188013	en	Synonym (core metadata concept)	Ketotic glycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501185011 - Ketotic hyperglycinaemia (en) View
501185011	en	Synonym (core metadata concept)	Ketotic hyperglycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501189017 - Ketotic hyperglycinemia (en) View
501189017	en	Synonym (core metadata concept)	Ketotic hyperglycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501182014 - Propionic acidaemia (en) View
501182014	en	Synonym (core metadata concept)	Propionic acidaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
114737015 - Propionic acidemia (en) View
114737015	en	Synonym (core metadata concept)	Propionic acidemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
808985015 - Propionic acidemia (disorder) (en) View
808985015	en	Fully specified name (core metadata concept)	Propionic acidemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1788120019 - PCC - Propionyl-CoA carboxylase deficiency (en) View
1788120019	en	Synonym (core metadata concept)	PCC - Propionyl-CoA carboxylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1788119013 - Propionyl-CoA carboxylase deficiency (en) View
1788119013	en	Synonym (core metadata concept)	Propionyl-CoA carboxylase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
114738013 - Propionic acidemia, NOS (en) View
114738013	en	Synonym (core metadata concept)	Propionic acidemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2269315028) - 69080001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695782025) - 69080001 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (846435021) - 69080001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2230523026) - 69080001 -> 116020001 (116680003) View
116680003 \|Is a (attribute)\|	116020001 \|Disorder of branched-chain amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2230524021) - 69080001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2230525022) - 69080001 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260466022) - 69080001 -> 70731005 (116680003) View
116680003 \|Is a (attribute)\|	70731005 \|Acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260467029) - 69080001 -> 84618009 (116680003) View
116680003 \|Is a (attribute)\|	84618009 \|Disorder of propionate and/or methylmalonate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260468023) - 69080001 -> 26513001 (116680003) View
116680003 \|Is a (attribute)\|	26513001 \|Non-amino organic acidemia and/or aciduria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26513001 View
26513001	Non-amino organic acidemia and/or aciduria (disorder)	Non-amino organic acidemia and/or aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70731005 View
70731005	Acidemia (disorder)	Acidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84618009 View
84618009	Disorder of propionate and/or methylmalonate metabolism (disorder)	Disorder of propionate and/or methylmalonate metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
116020001 View
116020001	Disorder of branched-chain amino acid metabolism (disorder)	Branched chain amino acid metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
399087009 View
399087009	Propionic acidemia, type i (disorder)	Propionic acidemia, type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
399149003 View
399149003	Propionic acidemia, type ii (disorder)	Propionic acidemia, type ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303094000 View
303094000	Propionyl-coa carboxylase deficiency pcca complementation group (disorder)	Propionyl-coa carboxylase deficiency pcca complementation group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303095004 View
303095004	Propionyl-coa carboxylase deficiency pccbc complementation group (disorder)	Propionyl-coa carboxylase deficiency pccbc complementation group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (9cf6651f-f660-55f4-bf02-19c79a8728de) 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)\|

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