127038008: Hereditary hemoglobinopathy due to globin chain mutation (disorder)

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 hemoglobinopathy due to globin chain mutation

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation

\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 hemoglobinopathy due to globin chain mutation
\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 hemoglobinopathy due to globin chain mutation
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation
\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 hemoglobinopathy due to globin chain mutation
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation
\Disease\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation

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 hemoglobinopathy due to globin chain mutation	Is a	Hemoglobinopathy	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Finding site	Erythrocyte	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Is a	Hereditary hemoglobinopathy (disorder)	true	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary hemoglobinopathy due to globin chain mutation	Finding site	Erythrocyte	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Unstable hemoglobin disease	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin E disease	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin E trait	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin C disease	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin D disease	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin D trait	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin M disease	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin C trait	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hereditary hemoglobin S (disorder)	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Congenital methemoglobinemia with abnormal methemoglobins	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some
Hemoglobin O-Arab trait (disorder)	Is a	True	Hereditary hemoglobinopathy due to globin chain mutation	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
326013	Hereditary hemoglobinopathy due to globin chain mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
206335017	Structural hemoglobinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474018017	Hereditary haemoglobinopathy due to globin chain mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474019013	Structural haemoglobinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731076011	Hereditary hemoglobinopathy due to globin chain mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4785421000241116	hémoglobinopathie héréditaire sur mutation de chaine de globine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module