Code System Concept

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Code System Concept

Code System Concept Code	722051004
Code System Concept Name	Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)
Code System Preferred Concept Name	Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay 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Superseded By Concept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	Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3330393011	Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay 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)

Colitis (disorder) {64226004 , SNOMED-CT } Congenital anomaly of large intestine (disorder) {1492007 , SNOMED-CT } Congenital heart disease (disorder) {13213009 , SNOMED-CT } Congenital hypothyroidism (disorder) {190268003 , SNOMED-CT } Craniosynostosis syndrome (disorder) {57219006 , SNOMED-CT } Developmental delay (disorder) {248290002 , SNOMED-CT } Obesity (disorder) {414916001 , 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,