74912001: Hereditary methemoglobinemia due to globin chain mutation (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\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation

\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Hereditary methemoglobinemia due to globin chain mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Congenital disease\Hereditary hemoglobinopathy\Hereditary hemoglobinopathy due to globin chain mutation\Hereditary methemoglobinemia due to globin chain mutation
\Disease\Congenital disease\Congenital methemoglobinemia\Hereditary methemoglobinemia due to globin chain mutation

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

124417019 Hemoglobin M disease en Synonym Active Only initial character case insensitive SNOMED CT core module

124418012 Hereditary M hemoglobinopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

124419016 Hereditary methemoglobinuria en Synonym Active Entire term case insensitive SNOMED CT core module

124420010 Hereditary methaemoglobinuria en Synonym Active Entire term case insensitive SNOMED CT core module

502851010 Hereditary M haemoglobinopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

502852015 Haemoglobin M disease en Synonym Active Only initial character case insensitive SNOMED CT core module

815464019 Hereditary methemoglobinemia due to globin chain mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2764786016 Hereditary methemoglobinemia due to globin chain mutation en Synonym Active Entire term case insensitive SNOMED CT core module

3789212017 Hereditary methemoglobinaemia due to globin chain mutation en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
124417019	Hemoglobin M disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
124418012	Hereditary M hemoglobinopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
124419016	Hereditary methemoglobinuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
124420010	Hereditary methaemoglobinuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
502851010	Hereditary M haemoglobinopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
502852015	Haemoglobin M disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
815464019	Hereditary methemoglobinemia due to globin chain mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2764786016	Hereditary methemoglobinemia due to globin chain mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789212017	Hereditary methemoglobinaemia due to globin chain mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module