Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 763620003 |
Code System Concept Name | Trichodermodysplasia and dental alterations syndrome (disorder) |
Code System Preferred Concept Name | Trichodermodysplasia and dental alterations 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Superseded By Concept | |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 rare genetic ectodermal dysplasia syndrome with characteristics of sparse, thin brittle scalp hair as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafe au lait spots on back, mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3643051014 | Pinheiro, Freire Maia, Miranda syndrome | Active | Synonym | false | false |
3643054018 | Trichodermodysplasia and dental alterations syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Congenital anomaly of tooth (disorder)
{422977003
, SNOMED-CT
}
Ectodermal dysplasia with hair-nail defect (disorder)
{239035009
, SNOMED-CT
}
Ectodermal dysplasia with hair-tooth-nail defects (disorder)
{239015008
, SNOMED-CT
}
Partial congenital absence of teeth (disorder)
{64969001
, SNOMED-CT
}
Tooth eruption disorder (disorder)
{234949000
, 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: