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Terminology chevron_right Concepts chevron_right 40751003

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Component

40751003

The component that hold information about this concept.

Fully Specified Name (FSN)

Persistent hyperphenylalaninemia and tyrosinemia (disorder)

Shortest Term

Hyperphenylalaninemia, type vi

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 and tyrosinemia (disorder)

SCTID: 40751003, Primitive, Active

40751003|Persistent hyperphenylalaninemia and tyrosinemia (disorder)|

en Hyperphenylalaninaemia, type vi
en Hyperphenylalaninemia, type vi
en Persistent hyperphenylalaninaemia and tyrosinaemia
en Persistent hyperphenylalaninemia and tyrosinemia
en Persistent hyperphenylalaninemia and tyrosinemia (disorder)

Expression

40751003 |Persistent hyperphenylalaninemia and tyrosinemia (disorder)|
 <<< 440009 |Persistent hyperphenylalaninemia (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
492764013 - Hyperphenylalaninaemia, type VI (en) View
492764013	en	Synonym (core metadata concept)	Hyperphenylalaninaemia, type VI	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
67974015 - Hyperphenylalaninemia, type VI (en) View
67974015	en	Synonym (core metadata concept)	Hyperphenylalaninemia, type VI	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
492765014 - Persistent hyperphenylalaninaemia AND tyrosinaemia (en) View
492765014	en	Synonym (core metadata concept)	Persistent hyperphenylalaninaemia AND tyrosinaemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
67973014 - Persistent hyperphenylalaninemia and tyrosinemia (en) View
67973014	en	Synonym (core metadata concept)	Persistent hyperphenylalaninemia and tyrosinemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
67972016 - Persistent hyperphenylalaninemia AND tyrosinemia (en) View
67972016	en	Synonym (core metadata concept)	Persistent hyperphenylalaninemia AND tyrosinemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
777453017 - Persistent hyperphenylalaninemia AND tyrosinemia (disorder) (en) View
777453017	en	Fully specified name (core metadata concept)	Persistent hyperphenylalaninemia AND tyrosinemia (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (773884023) - 40751003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (773886020) - 40751003 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (773885024) - 40751003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (214477022) - 40751003 -> 440009 (116680003) View
116680003 \|Is a (attribute)\|	440009 \|Persistent hyperphenylalaninemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
440009 View
440009	Persistent hyperphenylalaninemia (disorder)	Hyperphenylalaninemia, type ii	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 (4194cfdb-2c97-5f54-b152-0acdb181979b) 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 (579f6714-052e-5b1f-a32f-f229535aa950) 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)\|

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