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Terminology chevron_right Concepts chevron_right 68528007

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Component

68528007

The component that hold information about this concept.

Fully Specified Name (FSN)

Hyperphenylalaninemia (disorder)

Shortest Term

Hyperphenylalaninemia

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

Hyperphenylalaninemia (disorder)

SCTID: 68528007, Primitive, Active

68528007|Hyperphenylalaninemia (disorder)|

en Hyperphenylalaninaemia
en Hyperphenylalaninemia
en Hyperphenylalaninemia (disorder)

Expression

68528007 |Hyperphenylalaninemia (disorder)|
 <<< 12957008 |Disorder of phenylalanine metabolism (disorder)| + 
46556004 |Aminoacidemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
501041011 - Hyperphenylalaninaemia (en) View
501041011	en	Synonym (core metadata concept)	Hyperphenylalaninaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
113815013 - Hyperphenylalaninemia (en) View
113815013	en	Synonym (core metadata concept)	Hyperphenylalaninemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
808373019 - Hyperphenylalaninemia (disorder) (en) View
808373019	en	Fully specified name (core metadata concept)	Hyperphenylalaninemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
113816014 - Hyperphenylalaninemia, NOS (en) View
113816014	en	Synonym (core metadata concept)	Hyperphenylalaninemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (845114021) - 68528007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (845115022) - 68528007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (259576028) - 68528007 -> 12957008 (116680003) View
116680003 \|Is a (attribute)\|	12957008 \|Disorder of phenylalanine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (259577021) - 68528007 -> 46556004 (116680003) View
116680003 \|Is a (attribute)\|	46556004 \|Aminoacidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
12957008 View
12957008	Disorder of phenylalanine metabolism (disorder)	Disorder of phenylalanine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
46556004 View
46556004	Aminoacidemia (disorder)	Aminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
190687004 View
190687004	Phenylketonuria (disorder)	Folling disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1177177000 View
1177177000	Hyperphenylalaninemia due to dnaj heat shock protein family (hsp40) member c12 deficiency (disorder)	Hyperphenylalaninemia due to dnajc12 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28575006 View
28575006	Transient hyperphenylalaninemia (disorder)	Neonatal hyperphenylalaninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45116002 View
45116002	Sepiapterin reductase deficiency (disorder)	Biopterin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68724006 View
68724006	Tetrahydrobiopterin synthesis defect (disorder)	Hyperphenylalaninemia, type v	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 (1a6a53c9-f98a-5c7c-bf1d-04b6041e4ede) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.0	IFA 7573000 \| Classical phenylketonuria (disorder) \|	IF CLASSICAL PHENYLKETONURIA CHOOSE E70.0 \| 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 (1bc056f9-5aca-53d1-b34a-45f000fa6bf2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	OTHERWISE 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)\|
ExtendedMap object (9844f12f-a2bb-5fd8-a797-a86e483ccd0f) 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)\|
ExtendedMap object (c81a1938-458d-52b8-9962-920007cca35f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	IFA 440009 \| Persistent hyperphenylalaninemia (disorder) \|	IF PERSISTENT HYPERPHENYLALANINEMIA CHOOSE E70.1 \| 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 (d5199eaa-4884-5250-bb0f-69e841965f00) 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 (d9e82eeb-8a96-5cd7-90d0-3ab54e6397ad) 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)\|

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (1a6a53c9-f98a-5c7c-bf1d-04b6041e4ede) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.0	IFA 7573000 \| Classical phenylketonuria (disorder) \|	IF CLASSICAL PHENYLKETONURIA CHOOSE E70.0 \| 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 (1bc056f9-5aca-53d1-b34a-45f000fa6bf2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	OTHERWISE 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)\|
ExtendedMap object (9844f12f-a2bb-5fd8-a797-a86e483ccd0f) 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)\|
ExtendedMap object (c81a1938-458d-52b8-9962-920007cca35f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	IFA 440009 \| Persistent hyperphenylalaninemia (disorder) \|	IF PERSISTENT HYPERPHENYLALANINEMIA CHOOSE E70.1 \| 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 (d5199eaa-4884-5250-bb0f-69e841965f00) 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 (d9e82eeb-8a96-5cd7-90d0-3ab54e6397ad) 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)\|

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