40108008: Thalassemia (disorder)

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

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

\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassaemia

\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia

\Procedure related finding\Anemia due to disturbance of hemoglobin synthesis\Thalassaemia

\Disease\Genetic disease\Hereditary disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassaemia
\Disease\Disorder of cellular component of blood (disorder)\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia
\Disease\Disorder of body system\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

66816015 Thalassemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

492446019 Thalassaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

776688019 Thalassemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1229603011 Hereditary leptocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thalassaemia	Is a	Anemia due to disturbance of hemoglobin synthesis	true	Inferred relationship	Some
Thalassaemia	Is a	Hereditary hemoglobinopathy (disorder)	true	Inferred relationship	Some
Thalassaemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Thalassaemia	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Thalassaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Thalassaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha thalassemia (disorder)	Is a	True	Thalassaemia	Inferred relationship	Some
Heterozygous thalassemia	Is a	True	Thalassaemia	Inferred relationship	Some
Beta thalassemia	Is a	True	Thalassaemia	Inferred relationship	Some

Reference Sets

International Patient Summary