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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/715867000
http://purl.bioontology.org/ontology/SNOMEDCT/715867000
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Preferred Name | Pseudoaminopterin syndrome |
Definitions |
A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.
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Synonyms |
Pseudoaminopterin syndrome (disorder)
Aminopterin syndrome-like sine aminopterin
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature. |
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altLabel |
Pseudoaminopterin syndrome (disorder)
Aminopterin syndrome-like sine aminopterin
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prefLabel | Pseudoaminopterin syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000448009
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notation | 715867000
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Effective time | 20160731
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Active | 1
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Has finding site | |
Has pathological process | |
subClassOf | |
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
6011000124106~MAPGROUP~2
900000000000497000~MAPTARGET~XUtGY
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q74.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q74.8
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q87.5
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS Q87.5
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XUtGY
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Occurs in | |
cui | C0795939
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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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