Code System Concept

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Code System Concept

Code System Concept Code	1237179007
Code System Concept Name	FG syndrome type 1 (disorder)
Code System Preferred Concept Name	FG syndrome type 1 (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Superseded By Concept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	08/31/2022
SDO Date Revised	08/31/2022
Description	A rare X-linked syndromic intellectual disability with characteristics of developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please) and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies and abnormalities of the fingers and toes among others. Caused by mutation in the MED12 gene on chromosome Xq13.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5090959017	FG syndrome type 1	Active	Synonym	false	false
5090960010	Opitz Kaveggia 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) Developmental delay (disorder) {248290002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } FG syndrome (disorder) {49984004 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } X-linked recessive hereditary disease (disorder) {1162976004 , 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,