1148910003: hemoglobine C-bètathalassemie (aandoening)

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

\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)

\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hemoglobin C beta thalassemia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)
\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin C disease\Hemoglobin C beta thalassemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemoglobin C beta thalassemia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hemoglobin C beta thalassemia (disorder)	Is a	Hemoglobin C disease	true	Inferred relationship	Some
Hemoglobin C beta thalassemia (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Hemoglobin C beta thalassemia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Haemoglobin C beta plus thalassaemia	Is a	True	Hemoglobin C beta thalassemia (disorder)	Inferred relationship	Some
Haemoglobin C beta zero thalassaemia	Is a	True	Hemoglobin C beta thalassemia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4552781016	Hemoglobin C beta thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4552782011	Hemoglobin C beta thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4552783018	Haemoglobin C beta thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12967421000146113	hemoglobine C-bètathalassemie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12967431000146110	hemoglobine C-bètathalassemie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12967441000146119	HbC-bètathalassemie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)