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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/783005002
http://purl.bioontology.org/ontology/SNOMEDCT/783005002
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|---|---|
| Preferred Name | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
| Definitions |
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
A rare, multiple congenital anomalies/dysmorphic syndrome characterised by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
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| Synonyms |
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. A rare, multiple congenital anomalies/dysmorphic syndrome characterised by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
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| altLabel | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)
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| prefLabel | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 783005002
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| Effective time | 20190731
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| Active | 1
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| Has finding site | |
| Has clinical course | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPTARGET~G80.3
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVA2k
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q75.9
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q75.9
6011000124106~MAPGROUP~4
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q02
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS G80.3
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.0
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVA2k
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| Occurs in | |
| cui | C5190778
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| Has associated morphology |
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