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

SNOMED CT Concept\Clinical 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\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

326013 Hereditary hemoglobinopathy due to globin chain mutation en Synonym Active Entire term case insensitive SNOMED CT core module

206335017 Structural hemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

474018017 Hereditary haemoglobinopathy due to globin chain mutation en Synonym Active Entire term case insensitive SNOMED CT core module

474019013 Structural haemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

731076011 Hereditary hemoglobinopathy due to globin chain mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
326013	Hereditary hemoglobinopathy due to globin chain mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
206335017	Structural hemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
474018017	Hereditary haemoglobinopathy due to globin chain mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
474019013	Structural haemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
731076011	Hereditary hemoglobinopathy due to globin chain mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module