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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/254132000
http://purl.bioontology.org/ontology/SNOMEDCT/254132000
|
|---|---|
| Preferred Name | Endosteal hyperostoses with cerebellar hypoplasia |
| Definitions |
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.
|
| Synonyms |
Endosteal hyperostoses with cerebellar hypoplasia (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. |
|---|---|
| altLabel | Endosteal hyperostoses with cerebellar hypoplasia (disorder)
|
| prefLabel | Endosteal hyperostoses with cerebellar hypoplasia
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 254132000
|
| Effective time | 20020131
|
| Active | 1
|
| Has finding site | |
| Has clinical course | |
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q78.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q04.3
6011000124106~MAPTARGET~Q04.3
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q79.8
447562003~MAPADVICE~ALWAYS Q79.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.8
900000000000497000~MAPTARGET~X78Bd
6011000124106~MAPRULE~TRUE
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
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| CTV3ID | X78Bd
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| Occurs in | |
| cui | C0432274
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |