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Terminology chevron_right Concepts chevron_right 403001

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

4-hydroxyphenylpyruvate dioxygenase deficiency (disorder)

Shortest Term

Hawkinsinuria

Definition Status

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

Summary

4-hydroxyphenylpyruvate dioxygenase deficiency (disorder)

SCTID: 403001, Primitive, Inactive

403001|4-hydroxyphenylpyruvate dioxygenase deficiency (disorder)|

Expression

403001 |4-hydroxyphenylpyruvate dioxygenase deficiency (disorder)|
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Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1762015 - Hawkinsinuria (en) View
1762015	en	Synonym (core metadata concept)	Hawkinsinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
776919015 - 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) (en) View
776919015	en	Fully specified name (core metadata concept)	4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1761010 - 4-Hydroxyphenylpyruvate dioxygenase deficiency (en) View
1761010	en	Synonym (core metadata concept)	4-Hydroxyphenylpyruvate dioxygenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
492536018 - 4-Hydroxyphenylpyruvate hydroxylase deficiency (en) View
492536018	en	Synonym (core metadata concept)	4-Hydroxyphenylpyruvate hydroxylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
492537010 - Tyrosinaemia type III (en) View
492537010	en	Synonym (core metadata concept)	Tyrosinaemia type III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
492538017 - Tyrosinemia type III (en) View
492538017	en	Synonym (core metadata concept)	Tyrosinemia type III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (213718027) - 403001 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (213719024) - 403001 -> 123967008 (116680003) View
116680003 \|Is a (attribute)\|	123967008 \|Tyrosinuria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (213720029) - 403001 -> 28882002 (116680003) View
116680003 \|Is a (attribute)\|	28882002 \|Disorder of sulfur-bearing amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (772774024) - 403001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (772775020) - 403001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	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

Descriptions