Code System Concept

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Code System Concept

Code System Concept Code	1169362009
Code System Concept Name	Overgrowth syndrome with 2q37 translocation (disorder)
Code System Preferred Concept Name	Overgrowth syndrome with 2q37 translocation (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Superseded By Concept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	09/30/2021
SDO Date Revised	09/30/2021
Description	A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4607808019	Overgrowth syndrome with 2q37 translocation	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)

Anomaly of chromosome pair 2 (disorder) {32299009 , SNOMED-CT } Autosomal translocation (disorder) {709418005 , SNOMED-CT } Congenital anomaly of musculoskeletal system (disorder) {73573004 , SNOMED-CT } Disorder of skeletal system (disorder) {88230002 , SNOMED-CT } Disorder of stature (disorder) {237834000 , SNOMED-CT } Multiple malformation syndrome with early overgrowth (disorder) {48637007 , 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,