dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 360378009

Production

add

Component

360378009

The component that hold information about this concept.

Fully Specified Name (FSN)

Homogentisate 1,2-dioxygenase deficiency (disorder)

Shortest Term

Alkaptonuria

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

Homogentisate 1,2-dioxygenase deficiency (disorder)

SCTID: 360378009, Primitive, Active

360378009|Homogentisate 1,2-dioxygenase deficiency (disorder)|

en Hgd-gene related homogentisate 1,2-dioxygenase deficiency
en Alkaptonuria
en Hereditary ochronosis
en Deficiency of homogentisate 1,2-dioxygenase
en Deficiency of homogentisate oxygenase
en Deficiency of homogentisicase
en Homogentisate 1,2-dioxygenase deficiency
en Homogentisate 1,2-dioxygenase deficiency (disorder)
en Homogentisic acid oxidase deficiency
en Homogentisicaciduria

Expression

360378009 |Homogentisate 1,2-dioxygenase deficiency (disorder)|
 <<< 37200009 |Disorder of tyrosine metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5314993018 - HGD-gene related homogentisate 1,2-dioxygenase deficiency (en) View
5314993018	en	Synonym (core metadata concept)	HGD-gene related homogentisate 1,2-dioxygenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3761213017 - Alkaptonuria (en) View
3761213017	en	Synonym (core metadata concept)	Alkaptonuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3761212010 - Hereditary ochronosis (en) View
3761212010	en	Synonym (core metadata concept)	Hereditary ochronosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
476123018 - Deficiency of homogentisate 1,2-dioxygenase (en) View
476123018	en	Synonym (core metadata concept)	Deficiency of homogentisate 1,2-dioxygenase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
476124012 - Deficiency of homogentisate oxygenase (en) View
476124012	en	Synonym (core metadata concept)	Deficiency of homogentisate oxygenase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
476126014 - Deficiency of homogentisicase (en) View
476126014	en	Synonym (core metadata concept)	Deficiency of homogentisicase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
476127017 - Homogentisate 1,2-dioxygenase deficiency (en) View
476127017	en	Synonym (core metadata concept)	Homogentisate 1,2-dioxygenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
740109011 - Homogentisate 1,2-dioxygenase deficiency (disorder) (en) View
740109011	en	Fully specified name (core metadata concept)	Homogentisate 1,2-dioxygenase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
476125013 - Homogentisic acid oxidase deficiency (en) View
476125013	en	Synonym (core metadata concept)	Homogentisic acid oxidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
476122011 - Homogentisicaciduria (en) View
476122011	en	Synonym (core metadata concept)	Homogentisicaciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (703240021) - 360378009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (703241020) - 360378009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2543888023) - 360378009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2543889026) - 360378009 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (168274023) - 360378009 -> 37200009 (116680003) View
116680003 \|Is a (attribute)\|	37200009 \|Disorder of tyrosine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
37200009 View
37200009	Disorder of tyrosine metabolism (disorder)	Disorder of tyrosine 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
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	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 (d241dfef-14ea-5d6b-8ac2-718ed473a19b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.2	TRUE	ALWAYS E70.2	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 360378009

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches