74912001: Hereditary methemoglobinemia due to globin chain mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease

\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Haemoglobin M disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Haemoglobin M disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Haemoglobin M disease
\Disease\Congenital disease\Hereditary haemoglobinopathy\Hereditary haemoglobinopathy due to globin chain mutation\Haemoglobin M disease
\Disease\Congenital disease\Congenital methaemoglobinaemia\Haemoglobin M disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

124417019 Hemoglobin M disease en Synonym Active Initial character case insensitive SNOMED CT core

124418012 Hereditary M hemoglobinopathy en Synonym Active Initial character case insensitive SNOMED CT core

124419016 Hereditary methemoglobinuria en Synonym Active Case insensitive SNOMED CT core

124420010 Hereditary methaemoglobinuria en Synonym Active Case insensitive SNOMED CT core

2764786016 Hereditary methemoglobinemia due to globin chain mutation en Synonym Active Case insensitive SNOMED CT core

3789212017 Hereditary methemoglobinaemia due to globin chain mutation en Synonym Active Case insensitive SNOMED CT core

502851010 Hereditary M haemoglobinopathy en Synonym Active Initial character case insensitive SNOMED CT core

502852015 Haemoglobin M disease en Synonym Active Initial character case insensitive SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Haemoglobin M disease	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Haemoglobin M disease	Is a	Methaemoglobinaemia	false	Inferred relationship	Some
Haemoglobin M disease	Is a	Hereditary haemoglobinopathy due to globin chain mutation	true	Inferred relationship	Some
Haemoglobin M disease	Finding site	Body system structure	false	Inferred relationship	Some
Haemoglobin M disease	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Haemoglobin M disease	Is a	Congenital methaemoglobinaemia	true	Inferred relationship	Some
Haemoglobin M disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Haemoglobin M disease	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Haemoglobin M disease	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Haemoglobin M disease	Finding site	Erythrocyte	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
124417019	Hemoglobin M disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
124418012	Hereditary M hemoglobinopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
124419016	Hereditary methemoglobinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
124420010	Hereditary methaemoglobinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
2764786016	Hereditary methemoglobinemia due to globin chain mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
3789212017	Hereditary methemoglobinaemia due to globin chain mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
502851010	Hereditary M haemoglobinopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
502852015	Haemoglobin M disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
815464019	Hereditary methemoglobinemia due to globin chain mutation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core