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SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/771178004
http://purl.bioontology.org/ontology/SNOMEDCT/771178004
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|---|---|
| Preferred Name | Edinburgh malformation syndrome |
| Definitions |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinaemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
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| Synonyms |
Typus Edinburgensis
Edinburgh malformation syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinaemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. |
|---|---|
| altLabel |
Typus Edinburgensis
Edinburgh malformation syndrome (disorder)
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| prefLabel | Edinburgh malformation syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000017005
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| notation | 771178004
|
| Effective time | 20190131
|
| Active | 1
|
| Has finding site | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q95.2
6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q87.0
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q95.2
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000497000~MAPTARGET~XV6wr
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XV6wr
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| Occurs in | |
| cui | C0795933
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |