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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/763320005
http://purl.bioontology.org/ontology/SNOMEDCT/763320005
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Preferred Name | Craniofaciofrontodigital syndrome |
Definitions |
A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
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Synonyms |
Cantu craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome (disorder)
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). |
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altLabel |
Cantu craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome (disorder)
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prefLabel | Craniofaciofrontodigital syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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notation | 763320005
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Effective time | 20180731
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Active | 1
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Has finding site | |
interprets | |
Has pathological process | |
subClassOf |
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Semantic type UMLS property | |
Has interpretation | |
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
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q82.8
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q75.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q75.8
900000000000497000~MAPTARGET~XV1qV
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q82.8
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
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 | XV1qV
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Occurs in | |
cui | C2676032
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Has associated morphology |
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Subject | Author | Type | Class | Created |
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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 |
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