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782880001: Toms River-hemoglobinopathie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756529010 Haemoglobinopathy Toms River en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756530017 Hemoglobinopathy Toms River (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756531018 Hemoglobinopathy Toms River en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756532013 Transient neonatal cyanosis and anemia due to Toms River Hemoglobin en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756533015 Transient neonatal cyanosis and anaemia due to Toms River Haemoglobin en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
9908591000146119 Toms River-hemoglobinopathie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10883451000146114 hemoglobinopathie van Toms River nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10883611000146113 Toms River-hemoglobinopathie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3756534014 A rare genetic haemoglobinopathy disorder due to a defect in the gama subunit of the fetal haemoglobin and characterised by neonatal cyanosis, low haemoglobin oxygen saturation levels without arterial hypoxaemia, moderate anaemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756535010 A rare genetic hemoglobinopathy disorder due to a defect in the gama subunit of the fetal hemoglobin and characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Haemoglobinopathy Toms River Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Haemoglobinopathy Toms River Occurrence Congenital true Inferred relationship Some 1
Haemoglobinopathy Toms River Finding site Erythrocyte true Inferred relationship Some 1
Haemoglobinopathy Toms River Is a Hereditary hemoglobinopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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