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Terminology chevron_right Concepts chevron_right 16964007

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Component

16964007

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary persistence of fetal hemoglobin thalassemia (disorder)

Shortest Term

Hpfh

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 thalassemia (disorder)

SCTID: 16964007, Primitive, Active

16964007|Hereditary persistence of fetal hemoglobin thalassemia (disorder)|

en Hpfh (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome
en Hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome
en Hereditary persistence of fetal haemoglobin thalassaemia
en Hereditary persistence of fetal hemoglobin thalassemia
en Hereditary persistence of fetal hemoglobin thalassemia (disorder)
en Hereditary persistence of foetal haemoglobin thalassaemia

Expression

16964007 |Hereditary persistence of fetal hemoglobin thalassemia (disorder)|
 <<< 40108008 |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
28716016 - HPFH (en) View
28716016	en	Synonym (core metadata concept)	HPFH	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244049012 - HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome (en) View
5244049012	en	Synonym (core metadata concept)	HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5244050012 - HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome (en) View
5244050012	en	Synonym (core metadata concept)	HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
478010018 - Hereditary persistence of fetal haemoglobin thalassaemia (en) View
478010018	en	Synonym (core metadata concept)	Hereditary persistence of fetal haemoglobin thalassaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
28713012 - Hereditary persistence of fetal hemoglobin thalassemia (en) View
28713012	en	Synonym (core metadata concept)	Hereditary persistence of fetal hemoglobin thalassemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
744092016 - Hereditary persistence of fetal hemoglobin thalassemia (disorder) (en) View
744092016	en	Fully specified name (core metadata concept)	Hereditary persistence of fetal hemoglobin thalassemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2793345010 - Hereditary persistence of foetal haemoglobin thalassaemia (en) View
2793345010	en	Synonym (core metadata concept)	Hereditary persistence of foetal haemoglobin thalassaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
28714018 - Hereditary persistence of fetal hemoglobin thalassemia, NOS (en) View
28714018	en	Synonym (core metadata concept)	Hereditary persistence of fetal hemoglobin thalassemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
28715017 - HPFH, NOS (en) View
28715017	en	Synonym (core metadata concept)	HPFH, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6763532022) - 16964007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6763533028) - 16964007 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6763535024) - 16964007 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13898424024) - 16964007 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (711861020) - 16964007 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7006598027) - 16964007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7006599024) - 16964007 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2264658020) - 16964007 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6763534023) - 16964007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3190523027) - 16964007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2264657026) - 16964007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (711862029) - 16964007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (173742027) - 16964007 -> 40108008 (116680003) View
116680003 \|Is a (attribute)\|	40108008 \|Thalassemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
40108008 View
40108008	Thalassemia (disorder)	Thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32855007 View
32855007	Hereditary persistence of fetal hemoglobin unlinked to beta-globulin gene cluster (disorder)	Hpfh unlinked to beta-globulin gene cluster	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
39586009 View
39586009	Hereditary persistence of fetal hemoglobin a gamma beta^+^ thalassemia (disorder)	Hpfh a gamma beta^+^ thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54006005 View
54006005	Hereditary persistence of fetal hemoglobin delta beta^0^ thalassemia (disorder)	Hpfh delta beta^0^ thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
56205004 View
56205004	Hereditary persistence of fetal hemoglobin, nondeletion type (disorder)	Hpfh nondeletion type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61395005 View
61395005	Hereditary persistence of fetal hemoglobin g gamma beta plus thalassemia (disorder)	Hpfh g gamma beta^+^ thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85557000 View
85557000	Hereditary persistence of fetal hemoglobin deletion type (disorder)	Hpfh deletion type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89459006 View
89459006	Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)	Hpfh linked to beta-globulin gene cluster	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 (4648ea8e-15f5-5572-a2fc-e9846d314869) 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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