Code System Concept

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Code System Concept

Code System Concept Code	1300198006
Code System Concept Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)
Code System Preferred Concept Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability 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Superseded By Concept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	09/01/2024
SDO Date Created	02/01/2024
SDO Date Revised	02/01/2024
Description	A rare genetic syndromic intellectual disability disorder characterised by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioural problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5298546017	SMARCA2-related blepharophimosis, intellectual disability syndrome	Active	Synonym	false	false
5298547014	SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome	Active	Synonym	false	false
5298548016	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital blepharophimosis (disorder) {93040009 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Global developmental delay (disorder) {224958001 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , 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,