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Terminology chevron_right Concepts chevron_right 30174008

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Component

30174008

The component that hold information about this concept.

Fully Specified Name (FSN)

Childhood hypophosphatasia (disorder)

Shortest Term

Juvenile 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

Childhood hypophosphatasia (disorder)

SCTID: 30174008, Primitive, Active

30174008|Childhood hypophosphatasia (disorder)|

en Childhood hypophosphatasia
en Childhood hypophosphatasia (disorder)
en Hypophosphatasia, childhood type
en Juvenile hypophosphatasia

Expression

30174008 |Childhood hypophosphatasia (disorder)|
 <<< 190859005 |Hypophosphatasia (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
50489017 - Childhood hypophosphatasia (en) View
50489017	en	Synonym (core metadata concept)	Childhood hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
761149017 - Childhood hypophosphatasia (disorder) (en) View
761149017	en	Fully specified name (core metadata concept)	Childhood hypophosphatasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
50490014 - Hypophosphatasia, childhood type (en) View
50490014	en	Synonym (core metadata concept)	Hypophosphatasia, childhood type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
50491013 - Juvenile hypophosphatasia (en) View
50491013	en	Synonym (core metadata concept)	Juvenile hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (747446025) - 30174008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (747448029) - 30174008 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (747447023) - 30174008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (197082020) - 30174008 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1672510025) - 30174008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197081029) - 30174008 -> 190859005 (116680003) View
116680003 \|Is a (attribute)\|	190859005 \|Hypophosphatasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197083026) - 30174008 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190859005 View
190859005	Hypophosphatasia (disorder)	Hypophosphatasia	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 (adcf0855-aef0-5d5c-9371-3f5841633dc5) 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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