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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/715421009
http://purl.bioontology.org/ontology/SNOMEDCT/715421009
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|---|---|
| Preferred Name | Craniofrontonasal dysplasia |
| Definitions |
An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).
A rare X-linked malformation syndrome characterised by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).
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| Synonyms |
Craniofrontonasal dysplasia (disorder)
Craniofrontonasal syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). A rare X-linked malformation syndrome characterised by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). |
|---|---|
| altLabel |
Craniofrontonasal dysplasia (disorder)
Craniofrontonasal syndrome
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| prefLabel | Craniofrontonasal dysplasia
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 715421009
|
| Effective time | 20160731
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q87.0
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUtBj
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q87.0
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUtBj
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| Occurs in | |
| cui | C0220767
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |