5967006: hereditaire persistentie van foetaal hemoglobine type A-gamma-bèta^+^ en bèta^0^-thalassemie in cis (aandoening)

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

\Laboratory test finding (finding)\Hematopoietic system finding\...

\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\...

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\...

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

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

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

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\...

\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta plus thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Hereditary persistence of fetal hemoglobin thalassemia\HPFH A gamma beta^+^ thalassemia\A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis

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

Descriptions:

Id Description Lang Type Status Case? Module

10925016 A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

498509010 A>gamma< beta^+^ HPFH AND beta^0^ thalassaemia in cis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2988972011 A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3023237017 A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6430401000146111 A-gamma-bèta^+^-HPFH en bèta^0^-thalassemie in cis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6494691000146119 hereditaire persistentie van foetaal hemoglobine type A-gamma-bèta^+^ en bèta^0^-thalassemie in cis (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6494701000146119 hereditaire persistentie van foetaal hemoglobine type A-gamma-bèta^+^ en bèta^0^-thalassemie in cis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6494751000146118 erfelijke persistentie van HbF type A-gamma-bèta^+^ en bèta^0^-thalassemie in cis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Is a	HPFH A gamma beta^+^ thalassemia	true	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Finding site	Erythrocyte	false	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Finding site	Body system structure	false	Inferred relationship	Some
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Has interpretation	Below reference range	false	Inferred relationship	Some	1
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	1
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Interprets	Red blood cell count	false	Inferred relationship	Some	2
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Occurrence	Congenital	true	Inferred relationship	Some	3
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Finding site	Erythrocyte	true	Inferred relationship	Some	3
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets