427306008: Hereditary hemoglobinopathy (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)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)

\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)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary hemoglobinopathy (disorder)
\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)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)
\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)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2662307010 Hereditary hemoglobinopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2674112019 Hereditary hemoglobinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2674113012 Hereditary haemoglobinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5301661000241117 hémoglobinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hemoglobinopathy (disorder)	Is a	Hemoglobinopathy	true	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Finding site	Erythrocyte (cell)	false	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Is a	Congenital disease	true	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary hemoglobinopathy (disorder)	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous hemoglobinopathy	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Thalassemia	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Hereditary hemoglobinopathy due to globin chain mutation	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Heterozygous hemoglobinopathy	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some

This concept is not in any reference sets