FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

26682008: Homozygous beta thalassemia (disorder)

SNOMED CT Concept\Clinical finding (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 (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia

\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia

\Procedure related finding\Evaluation finding\...

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Homozygous beta thalassemia

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
Homozygous beta thalassemia	Is a	Beta thalassemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous beta thalassemia	Has interpretation	Below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous beta thalassemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous beta thalassemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Homozygous beta thalassemia	Interprets	Red blood cell count	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Homozygous beta thalassemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Homozygous beta thalassemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Homozygous beta thalassemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
44671012	Homozygous beta thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44672017	Cooley's anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
44673010	Mediterranean anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483318012	Beta thalassaemia major	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483319016	Cooley's anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483320010	Homozygous beta thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
757162012	Homozygous beta thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44671012	Homozygous beta thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44671012	Homozygous beta thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44672017	Cooley's anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
44673010	Mediterranean anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483318012	Beta thalassaemia major	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483318012	Beta thalassaemia major	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483319016	Cooley's anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483320010	Homozygous beta thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483320010	Homozygous beta thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
757162012	Homozygous beta thalassemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
757162012	Homozygous beta thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3419091001000111	Beta-Thalassämie major	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391613014	bêta-thalassémie homozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
596091000172115	bêtathalassémie homozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391613014	bêta-thalassémie homozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
596091000172115	bêtathalassémie homozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419091001000111	Beta-Thalassämie major	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module