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39586009: Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\...

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia

\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\...

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia

\Procedure related finding\Evaluation finding\...

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HPFH A gamma beta^+^ thalassemia	Is a	Hereditary persistence of fetal hemoglobin thalassemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Is a	Beta plus thalassemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Has interpretation	Below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HPFH A gamma beta^+^ thalassemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HPFH A gamma beta^+^ thalassemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HPFH A gamma beta^+^ thalassemia	Interprets	Red blood cell count	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HPFH A gamma beta^+^ thalassemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HPFH A gamma beta^+^ thalassemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HPFH A gamma beta^+^ thalassemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Is a	True	HPFH A gamma beta^+^ thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
66390015	HPFH A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
492143018	HPFH A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2620662019	Hereditary persistence of fetal hemoglobin (HPFH) A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2793326018	Hereditary persistence of foetal haemoglobin (HPFH) A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914230018	Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914263013	Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3012701016	Hereditary persistence of fetal haemoglobin A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
66390015	HPFH A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
492143018	HPFH A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492143018	HPFH A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
776066018	HPFH A gamma beta^+^ thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
776066018	HPFH A gamma beta^+^ thalassemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612287014	Hereditary persistence of fetal hemoglobin (HPFH) A gamma beta^+^ thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620662019	Hereditary persistence of fetal hemoglobin (HPFH) A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620663012	Hereditary persistence of fetal haemoglobin (HPFH) A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2793326018	Hereditary persistence of foetal haemoglobin (HPFH) A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914230018	Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914263013	Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3012701016	Hereditary persistence of fetal haemoglobin A gamma beta^+^ thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6280131000241115	persistance héréditaire d'hémoglobine fœtale avec thalassémie A gamma bêta plus	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280141000241113	PHHF (persistance héréditaire d'hémoglobine fœtale) avec thalassémie A gamma bêta plus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280131000241115	persistance héréditaire d'hémoglobine fœtale avec thalassémie A gamma bêta plus	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280141000241113	PHHF (persistance héréditaire d'hémoglobine fœtale) avec thalassémie A gamma bêta plus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module