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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1217225001
http://purl.bioontology.org/ontology/SNOMEDCT/1217225001
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|---|---|
| Preferred Name | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
| Definitions |
A rare genetic disease with the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.
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| Synonyms |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic disease with the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
|---|---|
| altLabel | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)
|
| prefLabel | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000017005
|
| notation | 1217225001
|
| Effective time | 20220430
|
| Active | 1
|
| 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
6011000124106~MAPGROUP~2
447562003~MAPADVICE~ALWAYS Q76.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~Q76.1
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q76.1
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q76.1
6011000124106~MAPADVICE~ALWAYS G71.20
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~G71.20
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000497000~MAPTARGET~XVI8H
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVI8H
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| Occurs in | |
| cui | C4225285
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| Has associated morphology |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| 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 |
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