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Terminology chevron_right Concepts chevron_right 440009

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Component

440009

The component that hold information about this concept.

Fully Specified Name (FSN)

Persistent hyperphenylalaninemia (disorder)

Shortest Term

Hyperphenylalaninemia, type ii

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

Persistent hyperphenylalaninemia (disorder)

SCTID: 440009, Primitive, Active

440009|Persistent hyperphenylalaninemia (disorder)|

en Essential hyperphenylalaninaemia
en Essential hyperphenylalaninemia
en Persistent hyperphenylalaninaemia
en Persistent hyperphenylalaninemia
en Persistent hyperphenylalaninemia (disorder)
en Hyperphenylalaninaemia, type ii
en Hyperphenylalaninemia, type ii

Expression

440009 |Persistent hyperphenylalaninemia (disorder)|
 <<< 7573000 |Classical phenylketonuria (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
493754011 - Essential hyperphenylalaninaemia (en) View
493754011	en	Synonym (core metadata concept)	Essential hyperphenylalaninaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1816019 - Essential hyperphenylalaninemia (en) View
1816019	en	Synonym (core metadata concept)	Essential hyperphenylalaninemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
493753017 - Persistent hyperphenylalaninaemia (en) View
493753017	en	Synonym (core metadata concept)	Persistent hyperphenylalaninaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1815015 - Persistent hyperphenylalaninemia (en) View
1815015	en	Synonym (core metadata concept)	Persistent hyperphenylalaninemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
781079017 - Persistent hyperphenylalaninemia (disorder) (en) View
781079017	en	Fully specified name (core metadata concept)	Persistent hyperphenylalaninemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
493755012 - Hyperphenylalaninaemia, type II (en) View
493755012	en	Synonym (core metadata concept)	Hyperphenylalaninaemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1817011 - Hyperphenylalaninemia, type II (en) View
1817011	en	Synonym (core metadata concept)	Hyperphenylalaninemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (782019020) - 440009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (782021026) - 440009 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782020025) - 440009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (219685023) - 440009 -> 7573000 (116680003) View
116680003 \|Is a (attribute)\|	7573000 \|Classical phenylketonuria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
7573000 View
7573000	Classical phenylketonuria (disorder)	Pku	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
40751003 View
40751003	Persistent hyperphenylalaninemia and tyrosinemia (disorder)	Hyperphenylalaninemia, type vi	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 (24b02072-b781-5587-bf48-e9af656d71bf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.2	IFA 40751003 \| Persistent hyperphenylalaninemia AND tyrosinemia (disorder) \|	IF PERSISTENT HYPERPHENYLALANINEMIA AND TYROSINEMIA CHOOSE E70.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (ab2a23f4-56af-5cb2-9c21-7aceebfebc64) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (ad05ab06-973e-5615-a958-3339a10f0d94) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	TRUE	ALWAYS E70.1	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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