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Terminology chevron_right Concepts chevron_right 267454002

Production

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Component

267454002

The component that hold information about this concept.

Fully Specified Name (FSN)

Acatalasemia (disorder)

Shortest Term

Acatalasia

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

Acatalasemia (disorder)

SCTID: 267454002, Primitive, Active

267454002|Acatalasemia (disorder)|

en Acatalasaemia
en Acatalasemia
en Acatalasemia (disorder)
en Acatalasia
en Catalase deficiency
en Takahara disease

Expression

267454002 |Acatalasemia (disorder)|
 <<< 238066006 |Loss of single peroxisomal function (disorder)| + 
234414004 |Non-malignant white cell disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
398896019 - Acatalasaemia (en) View
398896019	en	Synonym (core metadata concept)	Acatalasaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
398894016 - Acatalasemia (en) View
398894016	en	Synonym (core metadata concept)	Acatalasemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
660072011 - Acatalasemia (disorder) (en) View
660072011	en	Fully specified name (core metadata concept)	Acatalasemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3011706011 - Acatalasia (en) View
3011706011	en	Synonym (core metadata concept)	Acatalasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
398895015 - Catalase deficiency (en) View
398895015	en	Synonym (core metadata concept)	Catalase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3010281013 - Takahara disease (en) View
3010281013	en	Synonym (core metadata concept)	Takahara disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (1002483021) - 267454002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11172316024) - 267454002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5045355028) - 267454002 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2744772024) - 267454002 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2744773025) - 267454002 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2493330024) - 267454002 -> 24827003 (116676008) View
116676008 \|Associated morphology (attribute)\|	24827003 \|White blood cell abnormality (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (342338025) - 267454002 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (342339022) - 267454002 -> 363136009 (116680003) View
116680003 \|Is a (attribute)\|	363136009 \|Hereditary disorder of hematologic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1696850029) - 267454002 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1796612020) - 267454002 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2274592028) - 267454002 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1002481023) - 267454002 -> 52501007 (363698007) View
363698007 \|Finding site (attribute)\|	52501007 \|Leukocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1002482027) - 267454002 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (342337024) - 267454002 -> 238066006 (116680003) View
116680003 \|Is a (attribute)\|	238066006 \|Loss of single peroxisomal function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (342340024) - 267454002 -> 234414004 (116680003) View
116680003 \|Is a (attribute)\|	234414004 \|Non-malignant white cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
234414004 View
234414004	Non-malignant white cell disorder (disorder)	Benign white cell disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238066006 View
238066006	Loss of single peroxisomal function (disorder)	Loss of single peroxisomal function	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 (df2d4879-b125-5e24-9882-bac583c8e2b7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E80.3	TRUE	ALWAYS E80.3	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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