Code System Concept

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Code System Concept

Code System Concept Code	1237512003
Code System Concept Name	Short stature, developmental delay, congenital heart defect syndrome (disorder)
Code System Preferred Concept Name	Short stature, developmental delay, congenital heart defect 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Superseded By Concept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	03/01/2023
SDO Date Created	09/30/2022
SDO Date Revised	09/30/2022
Description	A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5099583014	Short stature, developmental delay, congenital heart defect syndrome	Active	Synonym	false	false
5099588017	TKT (transketolase) deficiency	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)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cardiac complication (disorder) {40172005 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital heart disease (disorder) {13213009 , SNOMED-CT } Congenital malformation syndrome (disorder) {400038003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Pentose disorder (disorder) {57507002 , SNOMED-CT } Short stature disorder (disorder) {237836003 , 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,