123773003: Heterozygous hemoglobinopathy (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\Heterozygous hemoglobinopathy

\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy
\Disease\Congenital disease\Hereditary hemoglobinopathy\Heterozygous hemoglobinopathy

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

192262014 Heterozygous hemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

203428015 Trait hemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

203429011 Trait haemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

203430018 Heterozygous haemoglobinopathy en Synonym Active Entire term case insensitive SNOMED CT core module

726899017 Heterozygous hemoglobinopathy (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
Heterozygous hemoglobinopathy	Is a	Hemoglobinopathy	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Is a	Hereditary hemoglobinopathy	true	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Heterozygous hemoglobinopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Heterozygous hemoglobinopathy	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sickle cell trait	Is a	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier
Hemoglobin E trait	Is a	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier
Hemoglobin D trait	Is a	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier
Hemoglobin C trait	Is a	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier
Hemoglobin O-Arab trait	Is a	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with heterozygous haemoglobin variant not clinically significant (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with heterozygous haemoglobin variant of unknown clinical significance (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with heterozygous haemoglobin variant clinically significant (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with compound heterozygous haemoglobin variant not clinically significant (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with compound heterozygous haemoglobin variant clinically significant (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1
National Health Service Sickle Cell and Thalassaemia Screening Programme thalassaemia screening result consistent with compound heterozygous haemoglobin variant of unknown clinical significance (situation)	Associated finding	True	Heterozygous hemoglobinopathy	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
192262014	Heterozygous hemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
203428015	Trait hemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
203429011	Trait haemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
203430018	Heterozygous haemoglobinopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
726899017	Heterozygous hemoglobinopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module