dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 55236002

Production

add

Component

55236002

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile hypophosphatasia (disorder)

Shortest Term

Rathbun syndrome

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

Infantile hypophosphatasia (disorder)

SCTID: 55236002, Primitive, Active

55236002|Infantile hypophosphatasia (disorder)|

en Congenital hypophosphatasia
en Fetal hypophosphatasia
en Foetal hypophosphatasia
en Hypophosphatasia, infantile type
en Infantile hypophosphatasia
en Infantile hypophosphatasia (disorder)
en Phosphoethanolaminuria
en Rathbun syndrome

Expression

55236002 |Infantile hypophosphatasia (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
190859005 |Hypophosphatasia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
91835014 - Congenital hypophosphatasia (en) View
91835014	en	Synonym (core metadata concept)	Congenital hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
91836010 - Fetal hypophosphatasia (en) View
91836010	en	Synonym (core metadata concept)	Fetal hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3012196012 - Foetal hypophosphatasia (en) View
3012196012	en	Synonym (core metadata concept)	Foetal hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
91834013 - Hypophosphatasia, infantile type (en) View
91834013	en	Synonym (core metadata concept)	Hypophosphatasia, infantile type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
91833019 - Infantile hypophosphatasia (en) View
91833019	en	Synonym (core metadata concept)	Infantile hypophosphatasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
793556018 - Infantile hypophosphatasia (disorder) (en) View
793556018	en	Fully specified name (core metadata concept)	Infantile hypophosphatasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
497162013 - Phosphoethanolaminuria (en) View
497162013	en	Synonym (core metadata concept)	Phosphoethanolaminuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
497163015 - Rathbun syndrome (en) View
497163015	en	Synonym (core metadata concept)	Rathbun syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (810916025) - 55236002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (810917023) - 55236002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (237934029) - 55236002 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1677745029) - 55236002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (237932025) - 55236002 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (237933024) - 55236002 -> 190859005 (116680003) View
116680003 \|Is a (attribute)\|	190859005 \|Hypophosphatasia (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 (c93c973f-79ea-520c-a797-0ba0057e9bc1) 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)\|

Terminology chevron_right Concepts chevron_right 55236002

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches