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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1254650002
http://purl.bioontology.org/ontology/SNOMEDCT/1254650002
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|---|---|
| Preferred Name | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
| Definitions |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.
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| Synonyms |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
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| altLabel | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)
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| prefLabel | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 1254650002
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| Effective time | 20221031
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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 | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~ALWAYS Q18.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q04.0
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q04.0
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q18.9
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~4
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~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.0
900000000000497000~MAPTARGET~XVJAa
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVJAa
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| Occurs in | |
| cui | C4225352
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| Has associated morphology |
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