Code System Concept

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Code System Concept

Code System Concept Code	127038008
Code System Concept Name	Hereditary hemoglobinopathy due to globin chain mutation (disorder)
Code System Preferred Concept Name	Hereditary hemoglobinopathy due to globin chain mutation (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
206335017	Structural hemoglobinopathy	Active	Synonym	false	false
326013	Hereditary hemoglobinopathy due to globin chain mutation	Active	Synonym	false	false
474018017	Hereditary haemoglobinopathy due to globin chain mutation	Active	Synonym	false	false
474019013	Structural haemoglobinopathy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Hemoglobinopathy (disorder) {80141007 , SNOMED-CT } Hereditary hemoglobinopathy (disorder) {427306008 , SNOMED-CT } Hereditary red blood cell disorder (disorder) {414394009 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Hereditary hemoglobinopathy due to globin chain mutation (disorder) {127038008 , SNOMED-CT }

Parent/Child (Relationship Type)

Congenital methemoglobinemia with abnormal methemoglobins (disorder) {234396004 , SNOMED-CT } Hemoglobin C disease (disorder) {51053007 , SNOMED-CT } Hemoglobin C trait (disorder) {76050008 , SNOMED-CT } Hemoglobin D disease (disorder) {66729008 , SNOMED-CT } Hemoglobin D trait (disorder) {7391009 , SNOMED-CT } Hemoglobin E disease (disorder) {25065001 , SNOMED-CT } Hemoglobin E trait (disorder) {46248003 , SNOMED-CT } Hemoglobin O-Arab trait (disorder) {445542007 , SNOMED-CT } Hereditary hemoglobin S (disorder) {416417002 , SNOMED-CT } Hereditary methemoglobinemia due to globin chain mutation (disorder) {74912001 , SNOMED-CT } Unstable hemoglobin disease (disorder) {18273004 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,