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191169008: Hereditary elliptocytosis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

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


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary elliptocytosis Is a Erythrocyte membrane abnormality true Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Finding site Erythrocyte true Inferred relationship Existential restriction modifier 1
Hereditary elliptocytosis Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Is a Hereditary red blood cell disorder false Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Finding site Body system structure false Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Has definitional manifestation Red blood cell finding false Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hereditary elliptocytosis Interprets Measurement of total hemoglobin concentration true Inferred relationship Existential restriction modifier 3
Hereditary elliptocytosis Interprets Hemolysis true Inferred relationship Existential restriction modifier 4
Hereditary elliptocytosis Is a Congenital hemolytic anemia true Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Interprets Red blood cell count true Inferred relationship Existential restriction modifier 2
Hereditary elliptocytosis Has interpretation Present true Inferred relationship Existential restriction modifier 4
Hereditary elliptocytosis Has interpretation Below reference range true Inferred relationship Existential restriction modifier 2
Hereditary elliptocytosis Is a Hereditary hemolytic anemia true Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Is a Congenital malformation true Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Has interpretation Below reference range true Inferred relationship Existential restriction modifier 3
Hereditary elliptocytosis Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hereditary elliptocytosis Associated morphology Elliptocyte true Inferred relationship Existential restriction modifier 1
Hereditary elliptocytosis Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

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

This concept is not in any reference sets

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