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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1284851009
http://purl.bioontology.org/ontology/SNOMEDCT/1284851009
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|---|---|
| Preferred Name | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
| Definitions |
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.
A rare primary bone dysplasia with characteristics of microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities and severe joint laxity resulting in multiple joint dislocations.
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.
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| Synonyms |
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)
Liberfarb syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. A rare primary bone dysplasia with characteristics of microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities and severe joint laxity resulting in multiple joint dislocations. A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
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| prefLabel | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
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| altLabel | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)
Liberfarb syndrome
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20230531
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| cui | C5394404
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| Has pathological process | |
| CTV3ID | XVKtq
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 1284851009
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| type | |
| subClassOf |
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| Subset member | 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVKtq
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q87.19
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q78.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H35.50
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~5
6011000124106~MAPGROUP~4
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS H35.50
447562003~MAPADVICE~ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.5
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~ALWAYS H90.5
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