Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 768843007 |
Code System Concept Name | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Code System Preferred Concept Name | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
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Superseded By Concept | |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 | 07/31/2018 |
SDO Date Created | 07/31/2018 |
SDO Date Revised | 07/31/2018 |
Description | A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3687209013 | Tatton Brown Rahman overgrowth syndrome | Active | Synonym | false | false |
3687210015 | DNA methyltransferase 3 alpha overgrowth syndrome | Active | Synonym | false | false |
3687212011 | DNMT3A-related overgrowth syndrome | Active | Synonym | false | false |
3687213018 | Tatton Brown Rahman syndrome | Active | Synonym | false | false |
3687214012 | Tall stature, intellectual disability, facial dysmorphism syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Disorder of stature (disorder)
{237834000
, SNOMED-CT
}
Intellectual disability (disorder)
{110359009
, SNOMED-CT
}
Multiple malformation syndrome with early overgrowth (disorder)
{48637007
, 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: