Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 721221000 |
Code System Concept Name | Hirschsprung disease with deafness and polydactyly syndrome (disorder) |
Code System Preferred Concept Name | Hirschsprung disease with deafness and polydactyly 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Superseded By Concept | |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 | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3324657015 | Hirschsprung disease with deafness and polydactyly syndrome | Active | Synonym | false | false |
3324658013 | Santos Mateus Leal syndrome | Active | Synonym | false | false |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
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