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Terminology chevron_right Concepts chevron_right 89459006

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Component

89459006

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)

Shortest Term

Hpfh linked to beta-globulin gene cluster

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

Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)

SCTID: 89459006, Primitive, Active

89459006|Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)|

en Hereditary persistence of fetal haemoglobin (hpfh) linked to beta-globulin gene cluster
en Hereditary persistence of fetal haemoglobin linked to beta-globulin gene cluster
en Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster
en Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)
en Hereditary persistence of foetal haemoglobin (hpfh) linked to beta-globulin gene cluster
en Hereditary persistence of fetal hemoglobin (hpfh) linked to beta-globulin gene cluster
en Hpfh linked to beta-globulin gene cluster

Expression

89459006 |Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)|
 <<< 16964007 |Hereditary persistence of fetal hemoglobin thalassemia (disorder)|
        { 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)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2621312013 - Hereditary persistence of fetal haemoglobin (HPFH) linked to beta-globulin gene cluster (en) View
2621312013	en	Synonym (core metadata concept)	Hereditary persistence of fetal haemoglobin (HPFH) linked to beta-globulin gene cluster	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3789211012 - Hereditary persistence of fetal haemoglobin linked to beta-globulin gene cluster (en) View
3789211012	en	Synonym (core metadata concept)	Hereditary persistence of fetal haemoglobin linked to beta-globulin gene cluster	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2914567010 - Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (en) View
2914567010	en	Synonym (core metadata concept)	Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2913351014 - Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder) (en) View
2913351014	en	Fully specified name (core metadata concept)	Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2612733019 - Hereditary persistence of fetal hemoglobin (HPFH) linked to beta-globulin gene cluster (disorder) (en) View
2612733019	en	Fully specified name (core metadata concept)	Hereditary persistence of fetal hemoglobin (HPFH) linked to beta-globulin gene cluster (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2793448013 - Hereditary persistence of foetal haemoglobin (HPFH) linked to beta-globulin gene cluster (en) View
2793448013	en	Synonym (core metadata concept)	Hereditary persistence of foetal haemoglobin (HPFH) linked to beta-globulin gene cluster	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2621313015 - Hereditary persistence of fetal hemoglobin (HPFH) linked to beta-globulin gene cluster (en) View
2621313015	en	Synonym (core metadata concept)	Hereditary persistence of fetal hemoglobin (HPFH) linked to beta-globulin gene cluster	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
832356010 - HPFH linked to beta-globulin gene cluster (disorder) (en) View
832356010	en	Fully specified name (core metadata concept)	HPFH linked to beta-globulin gene cluster (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
148330018 - HPFH linked to beta-globulin gene cluster (en) View
148330018	en	Synonym (core metadata concept)	HPFH linked to beta-globulin gene cluster	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
148331019 - HPFH linked to beta-globulin gene cluster, NOS (en) View
148331019	en	Synonym (core metadata concept)	HPFH linked to beta-globulin gene cluster, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6764319020) - 89459006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6764320025) - 89459006 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6764322022) - 89459006 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13898405021) - 89459006 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898911025) - 89459006 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7006881022) - 89459006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7006882026) - 89459006 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2271067024) - 89459006 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6764321026) - 89459006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3190522021) - 89459006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2271066026) - 89459006 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898912021) - 89459006 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294369027) - 89459006 -> 16964007 (116680003) View
116680003 \|Is a (attribute)\|	16964007 \|Hereditary persistence of fetal hemoglobin thalassemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
16964007 View
16964007	Hereditary persistence of fetal hemoglobin thalassemia (disorder)	Hpfh	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 (b390df93-a8dd-53b5-842d-7e0f33aec21a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D56.4	TRUE	ALWAYS D56.4	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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