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Terminology chevron_right Concepts chevron_right 190859005

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Component

190859005

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypophosphatasia (disorder)

Shortest Term

Hypophosphatasia

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

Hypophosphatasia (disorder)

SCTID: 190859005, Primitive, Active

190859005|Hypophosphatasia (disorder)|

en Alkaline phosphatase deficiency
en Hypophosphatasia
en Hypophosphatasia (disorder)

Expression

190859005 |Hypophosphatasia (disorder)|
 <<< 237879001 |Disorder of phosphate, calcium and vitamin d metabolism (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
293438014 - Alkaline phosphatase deficiency (en) View
293438014	en	Synonym (core metadata concept)	Alkaline phosphatase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
293437016 - Hypophosphatasia (en) View
293437016	en	Synonym (core metadata concept)	Hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
574492015 - Hypophosphatasia (disorder) (en) View
574492015	en	Fully specified name (core metadata concept)	Hypophosphatasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (462434022) - 190859005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462433027) - 190859005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19267021) - 190859005 -> 237879001 (116680003) View
116680003 \|Is a (attribute)\|	237879001 \|Disorder of phosphate, calcium and vitamin d metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (19268027) - 190859005 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237879001 View
237879001	Disorder of phosphate, calcium and vitamin d metabolism (disorder)	Disorder of phosphate, calcium and vitamin d metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
708672004 View
708672004	Odontohypophosphatasia (disorder)	Odontohypophosphatasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
20756002 View
20756002	Adult hypophosphatasia (disorder)	Adult hypophosphatasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30174008 View
30174008	Childhood hypophosphatasia (disorder)	Juvenile hypophosphatasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
55236002 View
55236002	Infantile hypophosphatasia (disorder)	Rathbun syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85487008 View
85487008	Renal phosphaturia (disorder)	Phosphate diabetes	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 (4190b070-8106-5187-9a3d-08c0702c6c39) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E83.3	TRUE	ALWAYS E83.3	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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