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Terminology chevron_right Concepts chevron_right 14087004

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Component

14087004

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary stomatocytosis (disorder)

Shortest Term

Hereditary hydrocytosis

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Hereditary stomatocytosis (disorder)

SCTID: 14087004, Defined, Active

14087004|Hereditary stomatocytosis (disorder)|

en Hereditary hydrocytosis
en Hereditary stomatocytosis
en Hereditary stomatocytosis (disorder)

Expression

14087004 |Hereditary stomatocytosis (disorder)|
 === 3272007 |Stomatocytosis (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
234401000 |Erythrocyte enzyme deficiency (disorder)| + 
414394009 |Hereditary red blood cell disorder (disorder)| + 
165397008 |Hemoglobin below reference range (finding)| + 
165423001 |Red blood cell count below reference range (finding)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)| }
        { 116676008 |Associated morphology (attribute)| = 10636005 |Stomatocyte (cell)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
23982015 - Hereditary hydrocytosis (en) View
23982015	en	Synonym (core metadata concept)	Hereditary hydrocytosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
23981010 - Hereditary stomatocytosis (en) View
23981010	en	Synonym (core metadata concept)	Hereditary stomatocytosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
739994017 - Hereditary stomatocytosis (disorder) (en) View
739994017	en	Fully specified name (core metadata concept)	Hereditary stomatocytosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13891249029) - 14087004 -> 165397008 (116680003) View
116680003 \|Is a (attribute)\|	165397008 \|Hemoglobin below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891250029) - 14087004 -> 165423001 (116680003) View
116680003 \|Is a (attribute)\|	165423001 \|Red blood cell count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (702975021) - 14087004 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (702977029) - 14087004 -> 10636005 (116676008) View
116676008 \|Associated morphology (attribute)\|	10636005 \|Stomatocyte (cell)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2264365023) - 14087004 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6763484029) - 14087004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6763485028) - 14087004 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6763486027) - 14087004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6763487020) - 14087004 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5982006025) - 14087004 -> 414394009 (116680003) View
116680003 \|Is a (attribute)\|	414394009 \|Hereditary red blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (168104029) - 14087004 -> 363136009 (116680003) View
116680003 \|Is a (attribute)\|	363136009 \|Hereditary disorder of hematologic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2264364022) - 14087004 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (702976022) - 14087004 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (168102025) - 14087004 -> 3272007 (116680003) View
116680003 \|Is a (attribute)\|	3272007 \|Stomatocytosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (168103024) - 14087004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (168105028) - 14087004 -> 234401000 (116680003) View
116680003 \|Is a (attribute)\|	234401000 \|Erythrocyte enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
165397008 View
165397008	Hemoglobin below reference range (finding)	Hemoglobin low	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
165423001 View
165423001	Red blood cell count below reference range (finding)	Erythropenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414394009 View
414394009	Hereditary red blood cell disorder (disorder)	Hereditary red blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
3272007 View
3272007	Stomatocytosis (disorder)	Stomatocytosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234401000 View
234401000	Erythrocyte enzyme deficiency (disorder)	Erythrocyte enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782911008 View
782911008	Hereditary cryohydrocytosis with reduced stomatin (disorder)	Hereditary cryohydrocytosis type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773489008 View
773489008	Hereditary cryohydrocytosis with normal stomatin (disorder)	Hereditary cryohydrocytosis with normal stomatin	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717254007 View
717254007	Familial pseudohyperkalemia (disorder)	Familial pseudohyperkalemia	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 (9682e251-70bf-55af-aaf3-c27fa7aba5c6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D58.8	TRUE	ALWAYS D58.8	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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