Code System Concept

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Code System Concept

Code System Concept Code	414673004
Code System Concept Name	Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)
Code System Preferred Concept Name	Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)
Concept Status	Retired
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Superseded By Concept	Concept Code: 44600005 Concept Name: Xeroderma pigmentosum (disorder) Code System: SNOMED-CT
SDO Concept Status	Inactive
SDO Concept Status Date	07/31/2018
SDO Date Created	01/31/2005
SDO Date Revised	07/31/2018
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
2533142015	De Sanctis-Cacchione syndrome	Active	Synonym	false	false
2536925015	Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Active	Synonym	false	false
2536926019	Xerodermic idiocy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital hypoplasia of gonad (disorder) {93261006 , SNOMED-CT } Disorder of central nervous system due to xeroderma pigmentosum (disorder) {73663008 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Reproductive system hereditary disorder (disorder) {363290007 , SNOMED-CT } Short stature disorder (disorder) {237836003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

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