25065001: Hemoglobin E disease (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)\Hereditary hemoglobinopathy due to globin chain mutation\Hemoglobin E disease

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation\Hemoglobin E disease
\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary hemoglobinopathy due to globin chain mutation\Hemoglobin E disease

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

Descriptions:

Id Description Lang Type Status Case? Module

41996013 Hemoglobin E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

41997016 Hemoglobin E-E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482564013 Haemoglobin E-E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482565014 Haemoglobin E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482566010 Homozygous for Hb E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

755202015 Hemoglobin E disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

41996013 Hemoglobin E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

41997016 Hemoglobin E-E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482564013 Haemoglobin E-E disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

482564013 Haemoglobin E-E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482565014 Haemoglobin E disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

482566010 Homozygous for Hb E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

755202015 Hemoglobin E disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

755202015 Hemoglobin E disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3454531001000113 Hämoglobin-E-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

924631000172115 hémoglobinose E fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

924631000172115 hémoglobinose E fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3454531001000113 Hämoglobin-E-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemoglobin E disease	Is a	Hereditary hemoglobinopathy due to globin chain mutation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Has definitional manifestation	Red blood cell finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemoglobin E disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemoglobin E disease	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemoglobin E/beta thalassemia disease (disorder)	Is a	True	Hemoglobin E disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of haemoglobinopathy E	Associated finding	True	Hemoglobin E disease	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets