Code System Concept

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Code System Concept

Code System Concept Code	403759001
Code System Concept Name	Autosomal chromosomal disorder (disorder)
Code System Preferred Concept Name	Autosomal chromosomal disorder (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Superseded By Concept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	07/31/2003
SDO Date Created	07/31/2003
SDO Date Revised	07/31/2003
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
1782769019	Autosomal chromosomal disorder	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 , 1
Suspected Chromosomal Disorder (NCHS)	2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Chromosomal disorder (disorder) {409709004 , SNOMED-CT } Congenital disorder due to abnormality of chromosome number OR structure (disorder) {74345006 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Autosomal chromosomal disorder (disorder) {403759001 , SNOMED-CT }

Parent/Child (Relationship Type)

Autosomal aneuploidy (disorder) {428113000 , SNOMED-CT } Autosomal duplication (disorder) {429442006 , SNOMED-CT } Autosomal translocation (disorder) {709418005 , SNOMED-CT } Maternal uniparental disomy of chromosome 20 (disorder) {715735007 , SNOMED-CT } Paternal uniparental disomy of chromosome 20 (disorder) {715736008 , SNOMED-CT } Tetrasomy 15q (disorder) {1010613009 , SNOMED-CT } Tetrasomy 5p mosaicism (disorder) {1010614003 , SNOMED-CT } Uniparental disomy (disorder) {726400003 , SNOMED-CT }

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