Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 716701004 |
Code System Concept Name | Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) |
Code System Preferred Concept Name | Epidermolysis bullosa simplex co-occurrent with pyloric atresia (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Superseded By Concept | |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 | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3307251014 | Epidermolysis bullosa simplex with pyloric atresia | Active | Synonym | false | false |
3307255017 | Epidermolysis bullosa simplex co-occurrent with pyloric atresia | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive epidermolysis bullosa simplex (disorder)
{1156849001
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Connective tissue hereditary disorder (disorder)
{363045008
, SNOMED-CT
}
Digestive system hereditary disorder (disorder)
{363080007
, SNOMED-CT
}
Epidermolysis bullosa simplex (disorder)
{67144006
, SNOMED-CT
}
Hereditary disorder of the integument (disorder)
{363185004
, SNOMED-CT
}
Pyloric atresia (disorder)
{27729002
, 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: