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722125003: Overhydrated hereditary stomatocytosis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3330810015 Overhydrated hereditary stomatocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330811016 Overhydrated hereditary stomatocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402839010 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402840012 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330810015 Overhydrated hereditary stomatocytosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330810015 Overhydrated hereditary stomatocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330811016 Overhydrated hereditary stomatocytosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330811016 Overhydrated hereditary stomatocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330812011 A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330813018 A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402839010 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402840012 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3422891001000117 Stomatozytose, hereditäre mit Hyperhydrierung der Erythrozyten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906851000172110 stomatocytose héréditaire avec hématies hyperhydratées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
910731000172111 stomatocytose familiale avec hématies hyperhydratées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906851000172110 stomatocytose héréditaire avec hématies hyperhydratées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
910731000172111 stomatocytose familiale avec hématies hyperhydratées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422891001000117 Stomatozytose, hereditäre mit Hyperhydrierung der Erythrozyten 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
Overhydrated hereditary stomatocytosis (disorder) Associated morphology Stomatocyte (cell) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Overhydrated hereditary stomatocytosis (disorder) Is a Hereditary stomatocytosis false Inferred relationship Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder) Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 1
Overhydrated hereditary stomatocytosis (disorder) Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 4
Overhydrated hereditary stomatocytosis (disorder) Interprets Red blood cell count false Inferred relationship Existential restriction modifier (core metadata concept) 4
Overhydrated hereditary stomatocytosis (disorder) Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 5
Overhydrated hereditary stomatocytosis (disorder) Interprets Measurement of total haemoglobin concentration false Inferred relationship Existential restriction modifier (core metadata concept) 5
Overhydrated hereditary stomatocytosis (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder) Is a Erythrocyte enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder) Is a Stomatocytosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder) 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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