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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/773274001
http://purl.bioontology.org/ontology/SNOMEDCT/773274001
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Preferred Name | X-linked intellectual disability, craniofacioskeletal syndrome |
Definitions |
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
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Synonyms |
X-linked intellectual disability, craniofacioskeletal syndrome (disorder)
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
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altLabel | X-linked intellectual disability, craniofacioskeletal syndrome (disorder)
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prefLabel | X-linked intellectual disability, craniofacioskeletal syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000017005
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notation | 773274001
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Effective time | 20190131
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Active | 1
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interprets | |
Has pathological process | |
subClassOf | |
Semantic type UMLS property | |
Has interpretation | |
type | |
Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q87.5
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~ALWAYS Q87.5 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q75.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
900000000000497000~MAPTARGET~XV7Uq
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS Q75.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XV7Uq
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Occurs in | |
cui | C4750743
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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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