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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/721221000
http://purl.bioontology.org/ontology/SNOMEDCT/721221000
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|---|---|
| Preferred Name | Hirschsprung disease with deafness and polydactyly syndrome |
| Definitions |
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.
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| Synonyms |
Santos Mateus Leal syndrome
Hirschsprung disease with deafness and polydactyly syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Santos Mateus Leal syndrome
Hirschsprung disease with deafness and polydactyly syndrome (disorder)
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| prefLabel | Hirschsprung disease with deafness and polydactyly syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000017005
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| notation | 721221000
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| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member |
447562003~MAPADVICE~ALWAYS Q69.9
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q69.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
900000000000497000~MAPTARGET~XUuQP
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q43.1
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~Q43.1
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS H90.5
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~Q69.9
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q69.9
447562003~MAPTARGET~H90.5
6011000124106~MAPTARGET~Q43.1
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q43.1
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~ALWAYS H90.5
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuQP
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| Occurs in | |
| cui | C2931452
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| Has associated morphology |
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