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	726620005
Code System Concept Name	Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
Code System Preferred Concept Name	Arthrogryposis hyperkeratosis syndrome lethal form (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3451039019	Arthrogryposis hyperkeratosis syndrome lethal form	Active	Synonym	false	false
3451040017	Johnston Aarons Schelley syndrome	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Amyoplasia congenita disruptive sequence (disorder) {77016009 , SNOMED-CT } Arthrogryposis multiplex congenita (disorder) {205402004 , SNOMED-CT } Congenital anomaly of skin (disorder) {199879009 , SNOMED-CT } Functional finding (finding) {118228005 , SNOMED-CT } Hyperkeratosis (disorder) {396228006 , SNOMED-CT } Keratoderma (disorder) {707209001 , SNOMED-CT } Skin lesion (disorder) {95324001 , 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,