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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/718575002
http://purl.bioontology.org/ontology/SNOMEDCT/718575002
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|---|---|
| Preferred Name | Ablepharon macrostomia syndrome |
| Definitions |
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.
An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.
An extremely rare multiple congenital malformation syndrome characterised by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.
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| Synonyms |
Ablepharon macrostomia syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. An extremely rare multiple congenital malformation syndrome characterised by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. |
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| altLabel | Ablepharon macrostomia syndrome (disorder)
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| prefLabel | Ablepharon macrostomia syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 718575002
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| Due to | |
| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q18.4
900000000000497000~MAPTARGET~XUtks
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q10.3
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q10.3
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q18.4
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q87.0
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUtks
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| Occurs in | |
| cui | C1860224
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |