16964007: Hereditary persistence of fetal hemoglobin 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\Hereditary persistence of fetal hemoglobin thalassemia

\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia
\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin thalassemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin 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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin 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
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Hereditary persistence of fetal hemoglobin 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
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin 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
\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
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Hereditary persistence of fetal hemoglobin 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
Hereditary persistence of fetal hemoglobin thalassemia	Is a	Thalassaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin thalassemia	Has interpretation	Below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary persistence of fetal hemoglobin thalassemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary persistence of fetal hemoglobin thalassemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary persistence of fetal hemoglobin thalassemia	Interprets	Red blood cell count	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary persistence of fetal hemoglobin thalassemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary persistence of fetal hemoglobin thalassemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary persistence of fetal hemoglobin 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
Hereditary persistence of foetal haemoglobin (HPF) unlinked to beta-globulin gene cluster	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH A gamma beta^+^ thalassemia	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin delta beta plus thalassemia (disorder)	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH nondeletion type	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal haemoglobin G gamma beta plus thalassaemia	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary persistence of foetal haemoglobin (HPFH) deletion type	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)
HPFH linked to beta-globulin gene cluster	Is a	True	Hereditary persistence of fetal hemoglobin thalassemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
28713012	Hereditary persistence of fetal hemoglobin thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
478010018	Hereditary persistence of fetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
744092016	Hereditary persistence of fetal hemoglobin thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2793345010	Hereditary persistence of foetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244049012	HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244050012	HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28713012	Hereditary persistence of fetal hemoglobin thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
28713012	Hereditary persistence of fetal hemoglobin thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28716016	HPFH	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
478010018	Hereditary persistence of fetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
478010018	Hereditary persistence of fetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
478010018	Hereditary persistence of fetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
744092016	Hereditary persistence of fetal hemoglobin thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
744092016	Hereditary persistence of fetal hemoglobin thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2793345010	Hereditary persistence of foetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2793345010	Hereditary persistence of foetal haemoglobin thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244049012	HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244050012	HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3391451001000115	Hereditäre Persistenz des fetalen Hämoglobins - beta-Thalassämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259761000241112	persistance héréditaire d'hémoglobine fœtale avec thalassémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259771000241116	PHHF (persistance héréditaire d'hémoglobine fœtale) avec thalassémie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259761000241112	persistance héréditaire d'hémoglobine fœtale avec thalassémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6259771000241116	PHHF (persistance héréditaire d'hémoglobine fœtale) avec thalassémie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391451001000115	Hereditäre Persistenz des fetalen Hämoglobins - beta-Thalassämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module