Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	205548006
Code System Concept Name	Harlequin ichthyosis (disorder)
Code System Preferred Concept Name	Harlequin ichthyosis (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Superseded By Concept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	07/31/2019
SDO Date Created	01/31/2002
SDO Date Revised	07/31/2019
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
315210011	Harlequin ichthyosis	Active	Synonym	false	false
315211010	Harlequin fetus	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
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)

Autosomal recessive ichthyosis (disorder) {402772005 , SNOMED-CT } Congenital ectropion (disorder) {26590002 , SNOMED-CT } Congenital ectropion of lip (disorder) {204647002 , SNOMED-CT } Congenital ichthyosis of skin (disorder) {13059002 , SNOMED-CT } Congenital structural abnormality of eyelid (disorder) {91158006 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Ectropion of eyelid (disorder) {62909004 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Site-specific disorder of skin (disorder) {238907001 , 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,