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723623002: 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
5403136014 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403137017 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anaemia and gallstones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403136014 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403137017 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anaemia and gallstones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3408071001000117 Ovalozytose, südostasiatische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
3408071001000117 Ovalozytose, südostasiatische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Southeast Asian ovalocytosis Associated morphology Stomatocyte (cell) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Southeast Asian ovalocytosis Is a Hereditary stomatocytosis false Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 1
Southeast Asian ovalocytosis Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 4
Southeast Asian ovalocytosis Interprets Red blood cell count false Inferred relationship Existential restriction modifier (core metadata concept) 4
Southeast Asian ovalocytosis Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 5
Southeast Asian ovalocytosis Interprets Measurement of total haemoglobin concentration false Inferred relationship Existential restriction modifier (core metadata concept) 5
Southeast Asian ovalocytosis Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Is a Erythrocyte enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Is a Stomatocytosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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