Link to this page
SNOMED CT
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/716248001
http://purl.bioontology.org/ontology/SNOMEDCT/716248001
|
|---|---|
| Preferred Name | Zlotogora Ogur syndrome |
| Definitions |
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.
|
| Synonyms |
Cleft lip and palate with syndactyly and pili torti
Zlotogora Zilberman Tenenbaum syndrome
Cleft lip and cleft palate with ectodermal dysplasia syndrome
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. |
|---|---|
| altLabel | Cleft lip and palate with syndactyly and pili torti
Zlotogora Zilberman Tenenbaum syndrome
Cleft lip and cleft palate with ectodermal dysplasia syndrome
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)
|
| prefLabel | Zlotogora Ogur syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| notation | 716248001
|
| Effective time | 20160731
|
| Active | 1
|
| Has finding site | |
| Has pathological process | |
| subClassOf |
See more
See less
|
| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPTARGET~Q37.9
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q82.4
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS Q37.9
447562003~MAPTARGET~Q37.9
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q37.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000497000~MAPTARGET~XUtEg
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q82.4
447562003~MAPTARGET~Q82.4
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q82.4
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XUtEg
|
| Occurs in | |
| cui | C2931488
|
| Has associated morphology |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |