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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/768935003
http://purl.bioontology.org/ontology/SNOMEDCT/768935003
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|---|---|
| Preferred Name | Multiple epiphyseal dysplasia Lowry type |
| Definitions |
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterised by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
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| Synonyms |
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia Lowry type (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterised by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. |
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| altLabel |
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia Lowry type (disorder)
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| prefLabel | Multiple epiphyseal dysplasia Lowry type
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000020002
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| notation | 768935003
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| Effective time | 20180731
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| Active | 1
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| 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
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~MAPTARGET~Q78.8
6011000124106~MAPADVICE~ALWAYS Q78.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000497000~MAPTARGET~XV6Ua
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XV6Ua
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| Occurs in | |
| cui | C1832112
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| Has associated morphology |
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