dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 80908008

Production

add

Component

80908008

The component that hold information about this concept.

Fully Specified Name (FSN)

Ornithine carbamoyltransferase deficiency (disorder)

Shortest Term

Octd

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

Ornithine carbamoyltransferase deficiency (disorder)

SCTID: 80908008, Primitive, Active

80908008|Ornithine carbamoyltransferase deficiency (disorder)|

en Otc-gene related ornithine carbamoyltransferase deficiency
en Oct (ornithine carbamoyltransferase) deficiency
en Otc (ornithine transcarbamylase) deficiency
en Deficiency of citrulline phosphorylase
en Deficiency of ornithine carbamoyltransferase
en Deficiency of ornithine transcarbamylase
en Ornithine carbamoyltransferase deficiency
en Ornithine carbamoyltransferase deficiency (disorder)
en Ornithine transcarbamoylase deficiency
en Ornithine transcarbamylase deficiency

Expression

80908008 |Ornithine carbamoyltransferase deficiency (disorder)|
 <<< 9360008 |Hyperammonemia (disorder)| + 
82852009 |Sex-linked hereditary disorder (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5286198015 - OTC-gene related ornithine carbamoyltransferase deficiency (en) View
5286198015	en	Synonym (core metadata concept)	OTC-gene related ornithine carbamoyltransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
134208014 - OCTD (en) View
134208014	en	Synonym (core metadata concept)	OCTD	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
134209018 - OCT deficiency (en) View
134209018	en	Synonym (core metadata concept)	OCT deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244061016 - OCT (ornithine carbamoyltransferase) deficiency (en) View
5244061016	en	Synonym (core metadata concept)	OCT (ornithine carbamoyltransferase) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504542012 - OCT - Ornithine carbamoyltransferase deficiency (en) View
504542012	en	Synonym (core metadata concept)	OCT - Ornithine carbamoyltransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244062011 - OTC (ornithine transcarbamylase) deficiency (en) View
5244062011	en	Synonym (core metadata concept)	OTC (ornithine transcarbamylase) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504541017 - OTC - Ornithine transcarbamylase deficiency (en) View
504541017	en	Synonym (core metadata concept)	OTC - Ornithine transcarbamylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
504543019 - Deficiency of citrulline phosphorylase (en) View
504543019	en	Synonym (core metadata concept)	Deficiency of citrulline phosphorylase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
504545014 - Deficiency of ornithine carbamoyltransferase (en) View
504545014	en	Synonym (core metadata concept)	Deficiency of ornithine carbamoyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
504546010 - Deficiency of ornithine transcarbamylase (en) View
504546010	en	Synonym (core metadata concept)	Deficiency of ornithine transcarbamylase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
134206013 - Ornithine carbamoyltransferase deficiency (en) View
134206013	en	Synonym (core metadata concept)	Ornithine carbamoyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
822120013 - Ornithine carbamoyltransferase deficiency (disorder) (en) View
822120013	en	Fully specified name (core metadata concept)	Ornithine carbamoyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
504544013 - Ornithine transcarbamoylase deficiency (en) View
504544013	en	Synonym (core metadata concept)	Ornithine transcarbamoylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
134207016 - Ornithine transcarbamylase deficiency (en) View
134207016	en	Synonym (core metadata concept)	Ornithine transcarbamylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
213743014 - Hyperammonaemia, type II (en) View
213743014	en	Synonym (core metadata concept)	Hyperammonaemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
213744015 - Hyperammonemia, type II (en) View
213744015	en	Synonym (core metadata concept)	Hyperammonemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (876016021) - 80908008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2697335023) - 80908008 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (876017028) - 80908008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (279521023) - 80908008 -> 9360008 (116680003) View
116680003 \|Is a (attribute)\|	9360008 \|Hyperammonemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (279522027) - 80908008 -> 82852009 (116680003) View
116680003 \|Is a (attribute)\|	82852009 \|Sex-linked hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (279523021) - 80908008 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
9360008 View
9360008	Hyperammonemia (disorder)	Hyperammonemia	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
82852009 View
82852009	Sex-linked hereditary disorder (disorder)	Sex-linked hereditary disorder	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

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 (e717d294-008e-5fba-82f8-43963ef5b29a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.4	TRUE	ALWAYS E72.4	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)\|

Terminology chevron_right Concepts chevron_right 80908008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches