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Terminology chevron_right Concepts chevron_right 719402008

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Component

719402008

The component that hold information about this concept.

Fully Specified Name (FSN)

Lethal hemolytic anemia and genital anomaly syndrome (disorder)

Shortest Term

Waters west 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

Lethal hemolytic anemia and genital anomaly syndrome (disorder)

SCTID: 719402008, Primitive, Active

719402008|Lethal hemolytic anemia and genital anomaly syndrome (disorder)|

en Lethal haemolytic anaemia and genital anomaly syndrome
en Lethal hemolytic anemia and genital anomaly syndrome
en Lethal hemolytic anemia and genital anomaly syndrome (disorder)
en Waters west syndrome

Expression

719402008 |Lethal hemolytic anemia and genital anomaly syndrome (disorder)|
 <<< 63565007 |Congenital anemia (disorder)| + 
287085006 |Genitourinary congenital anomalies (disorder)| + 
301317008 |Hereditary nonspherocytic hemolytic anemia (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21514008 |Structure of genitourinary system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 52101004 |Present (qualifier value)|,
363714003 |Interprets (attribute)| = 404227002 |Hemolysis (observable entity)| }
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3316224011 - Lethal haemolytic anaemia and genital anomaly syndrome (en) View
3316224011	en	Synonym (core metadata concept)	Lethal haemolytic anaemia and genital anomaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316223017 - Lethal hemolytic anemia and genital anomaly syndrome (en) View
3316223017	en	Synonym (core metadata concept)	Lethal hemolytic anemia and genital anomaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316222010 - Lethal hemolytic anemia and genital anomaly syndrome (disorder) (en) View
3316222010	en	Fully specified name (core metadata concept)	Lethal hemolytic anemia and genital anomaly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316225012 - Waters West syndrome (en) View
3316225012	en	Synonym (core metadata concept)	Waters West syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069164023) - 719402008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626047028) - 719402008 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6773105021) - 719402008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6773106022) - 719402008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6773107029) - 719402008 -> 21514008 (363698007) View
363698007 \|Finding site (attribute)\|	21514008 \|Structure of genitourinary system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9187092026) - 719402008 -> 84054007 (363714003) View
363714003 \|Interprets (attribute)\|	84054007 \|Erythrocyte destruction, function (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519659020) - 719402008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519660026) - 719402008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519661027) - 719402008 -> 21514008 (363698007) View
363698007 \|Finding site (attribute)\|	21514008 \|Structure of genitourinary system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519662023) - 719402008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105771022) - 719402008 -> 52101004 (363713009) View
363713009 \|Has interpretation (attribute)\|	52101004 \|Present (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105772026) - 719402008 -> 404227002 (363714003) View
363714003 \|Interprets (attribute)\|	404227002 \|Hemolysis (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626048022) - 719402008 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626049025) - 719402008 -> 73320003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	73320003 \|Hemolysis (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626044024) - 719402008 -> 63565007 (116680003) View
116680003 \|Is a (attribute)\|	63565007 \|Congenital anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626045020) - 719402008 -> 287085006 (116680003) View
116680003 \|Is a (attribute)\|	287085006 \|Genitourinary congenital anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626046021) - 719402008 -> 301317008 (116680003) View
116680003 \|Is a (attribute)\|	301317008 \|Hereditary nonspherocytic hemolytic anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765513029) - 719402008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765514024) - 719402008 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6767888020) - 719402008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6767889028) - 719402008 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
63565007 View
63565007	Congenital anemia (disorder)	Congenital anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
287085006 View
287085006	Genitourinary congenital anomalies (disorder)	Congenital urogenital anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
301317008 View
301317008	Hereditary nonspherocytic hemolytic anemia (disorder)	Hnsha	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 (6f6bcbcb-6f28-5681-a69d-b9490833dc41) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D58.8	TRUE	ALWAYS D58.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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