Code System Concept

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Code System Concept

Code System Concept Code	1216940001
Code System Concept Name	Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
Code System Preferred Concept Name	Joint contractures, developmental delay, Pierre Robin 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Superseded By Concept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	09/01/2022
SDO Date Created	04/30/2022
SDO Date Revised	04/30/2022
Description	A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5033744019	5q23 microdeletion syndrome	Active	Synonym	false	false
5033748016	Joint contractures, developmental delay, Pierre Robin syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of joint (disorder) {95463009 , SNOMED-CT } Congenital deformity (disorder) {276655000 , SNOMED-CT } Contracture of joint (disorder) {7890003 , SNOMED-CT } Deletion of part of long arm of chromosome 5 (disorder) {726373003 , SNOMED-CT } Developmental delay (disorder) {248290002 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Joint deformity (finding) {250087009 , SNOMED-CT } Lesion of joint (disorder) {298149009 , SNOMED-CT } Robin sequence (disorder) {4602007 , 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,