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SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720816004
http://purl.bioontology.org/ontology/SNOMEDCT/720816004
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|---|---|
| Preferred Name | Craniosynostosis and intracranial calcification syndrome |
| Definitions |
A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
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| Synonyms |
Craniosynostosis and intracranial calcification syndrome (disorder)
Longman Tolmie syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
|---|---|
| altLabel |
Craniosynostosis and intracranial calcification syndrome (disorder)
Longman Tolmie syndrome
|
| prefLabel | Craniosynostosis and intracranial calcification syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 720816004
|
| Effective time | 20170131
|
| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 900000000000497000~MAPTARGET~XUuH2
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q75.0
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q75.009
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS G93.89
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~G93.89
6011000124106~MAPADVICE~ALWAYS Q75.0
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q75.009
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 | XUuH2
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| Occurs in | |
| cui | C4303809
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |
Notes
| Subject | Author | Type | Class | Created |
|---|---|---|---|---|
| ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
| Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
| SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
