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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719205008
http://purl.bioontology.org/ontology/SNOMEDCT/719205008
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|---|---|
| Preferred Name | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
| Definitions |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
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| Synonyms |
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
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| prefLabel | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
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| altLabel | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
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| Has clinical course | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20170131
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| cui | C4304887
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| Has pathological process | |
| CTV3ID | XUtsl
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000448009
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| Occurs in | |
| tui | T047
|
| Active | 1
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| Has associated morphology | |
| notation | 719205008
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| type | |
| subClassOf |
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| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
447562003~MAPTARGET~Q77.8
447562003~MAPADVICE~ALWAYS H35.5
447562003~MAPADVICE~ALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q78.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.54
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~H35.5
6011000124106~MAPADVICE~ALWAYS H35.54
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XUtsl
6011000124106~MAPRULE~TRUE
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