723623002: Southeast Asian ovalocytosis (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)\Southeast Asian ovalocytosis (disorder)

\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Southeast Asian ovalocytosis (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Southeast Asian ovalocytosis (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425307012 Southeast Asian ovalocytosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425308019 Southeast Asian ovalocytosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425309010 Melanesian ovalocytosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425310017 Stomatocytic elliptocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425311018 A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425312013 A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

874751000172113 elliptocytose mélanésienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

891171000172114 ovalocytose de l'Asie du Sud-Est fr 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
Southeast Asian ovalocytosis (disorder)	Associated morphology	Stomatocyte	true	Inferred relationship	Some	2
Southeast Asian ovalocytosis (disorder)	Is a	Hereditary stomatocytosis	false	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Southeast Asian ovalocytosis (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	4
Southeast Asian ovalocytosis (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Some	4
Southeast Asian ovalocytosis (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	5
Southeast Asian ovalocytosis (disorder)	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	5
Southeast Asian ovalocytosis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	Stomatocytosis	true	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some

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
3425307012	Southeast Asian ovalocytosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425308019	Southeast Asian ovalocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425309010	Melanesian ovalocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425310017	Stomatocytic elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425311018	A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425312013	A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
874751000172113	elliptocytose mélanésienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891171000172114	ovalocytose de l'Asie du Sud-Est	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module