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127038008: Hereditary hemoglobinopathy due to globin chain mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
326013 Hereditary hemoglobinopathy due to globin chain mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
206335017 Structural hemoglobinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
474018017 Hereditary haemoglobinopathy due to globin chain mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
474019013 Structural haemoglobinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
731076011 Hereditary hemoglobinopathy due to globin chain mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

51 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary hemoglobinopathy due to globin chain mutation Is a Hemoglobinopathy false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Finding site Erythrocyte false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Is a Hereditary red blood cell disorder (disorder) false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Finding site Body system structure false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Has definitional manifestation Red blood cell finding false Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Is a Hereditary hemoglobinopathy (disorder) true Inferred relationship Some
Hereditary hemoglobinopathy due to globin chain mutation Occurrence Congenital true Inferred relationship Some 1
Hereditary hemoglobinopathy due to globin chain mutation Finding site Erythrocyte true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Unstable hemoglobin disease Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin E disease Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin E trait Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin C disease Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin D disease Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin D trait Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin M disease Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin C trait Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hereditary hemoglobin S (disorder) Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Congenital methemoglobinemia with abnormal methemoglobins Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some
Hemoglobin O-Arab trait (disorder) Is a True Hereditary hemoglobinopathy due to globin chain mutation Inferred relationship Some

This concept is not in any reference sets

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