427306008: hereditaire hemoglobinopathie (aandoening)

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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)
\Disease\Disorder of body system\Hematological disorder (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)

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
6490561000146116 hereditaire hemoglobinopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6490571000146110 hereditaire hemoglobinopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6490581000146112 erfelijke hemoglobinopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	false	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Hereditary hemoglobinopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary hemoglobinopathy (disorder)	Finding site	Erythrocyte	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 haemoglobinopathy due to globin chain mutation	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Heterozygous hemoglobinopathy	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some
Haemoglobinopathy Toms River	Is a	True	Hereditary hemoglobinopathy (disorder)	Inferred relationship	Some

This concept is not in any reference sets