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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720982007
http://purl.bioontology.org/ontology/SNOMEDCT/720982007
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|---|---|
| Preferred Name | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
| Definitions |
This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
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| Synonyms |
AMME syndrome
AMME complex
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
|---|---|
| altLabel |
AMME syndrome
AMME complex
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
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| prefLabel | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000017005
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| notation | 720982007
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| Effective time | 20170131
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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 | 6011000124106~MAPTARGET~D58.1
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~ALWAYS D58.1
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q87.81
6011000124106~MAPADVICE~ALWAYS Q87.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUuHe
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~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPADVICE~ALWAYS Q18.8
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q18.8
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuHe
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| Occurs in | |
| cui | C1846242
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| Has associated morphology |
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