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191169008: Hereditary elliptocytosis (disorder)


Status: current, Defined. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293982012 Hereditary ovalocytosis en Synonym Active Case insensitive SNOMED CT core
293983019 HE - Hereditary elliptocytosis en Synonym Active Case sensitive SNOMED CT core
293984013 Hereditary elliptocytosis en Synonym Active Case insensitive SNOMED CT core
3787598014 Congenital elliptocytosis en Synonym Active Case insensitive SNOMED CT core
574836013 Hereditary elliptocytosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary elliptocytosis Occurrence Congenital true Inferred relationship Some 1
Hereditary elliptocytosis Interprets Measurement of total haemoglobin concentration true Inferred relationship Some 3
Hereditary elliptocytosis Interprets Haemolysis true Inferred relationship Some 4
Hereditary elliptocytosis Is a Congenital haemolytic anaemia true Inferred relationship Some
Hereditary elliptocytosis Interprets Red blood cell count true Inferred relationship Some 2
Hereditary elliptocytosis Has interpretation Present true Inferred relationship Some 4
Hereditary elliptocytosis Has interpretation Below reference range true Inferred relationship Some 2
Hereditary elliptocytosis Is a Hereditary haemolytic anaemia true Inferred relationship Some
Hereditary elliptocytosis Is a Congenital anomaly true Inferred relationship Some
Hereditary elliptocytosis Has interpretation Below reference range true Inferred relationship Some 3
Hereditary elliptocytosis Pathological process Pathological developmental process true Inferred relationship Some 1
Hereditary elliptocytosis Associated morphology Elliptocyte true Inferred relationship Some 1
Hereditary elliptocytosis Is a Developmental hereditary disorder true Inferred relationship Some
Hereditary elliptocytosis Is a Erythrocyte membrane abnormality true Inferred relationship Some
Hereditary elliptocytosis Finding site Haematopoietic system structure false Inferred relationship Some
Hereditary elliptocytosis Is a Hereditary red blood cell disorder false Inferred relationship Some
Hereditary elliptocytosis Finding site Body system structure false Inferred relationship Some
Hereditary elliptocytosis Has definitional manifestation Red blood cell finding false Inferred relationship Some
Hereditary elliptocytosis Finding site Haematopoietic system structure false Inferred relationship Some
Hereditary elliptocytosis Finding site Erythrocyte true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Homozygous hereditary elliptocytosis Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to glycophorin C deficiency Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to deficiency of protein 4.1 Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to beta spectrin defect in self-association Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to abnormal protein 4.1 Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis with transient poikilocytosis Is a True Hereditary elliptocytosis Inferred relationship Some
Hereditary elliptocytosis due to alpha spectrin defect Is a True Hereditary elliptocytosis Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Is a True Hereditary elliptocytosis Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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