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	719845008
Code System Concept Name	Van den Ende-Gupta syndrome (disorder)
Code System Preferred Concept Name	Van den Ende-Gupta syndrome (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3318142019	Van den Ende-Gupta syndrome	Active	Synonym	false	false
3318143012	Marden Walker like 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 } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Inherited arthrogryposis (disorder) {28204005 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , 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,