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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1186713004
http://purl.bioontology.org/ontology/SNOMEDCT/1186713004
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|---|---|
| Preferred Name | Growth delay, intellectual disability, hepatopathy syndrome |
| Definitions |
A rare, genetic, syndromic intellectual disability disease characterised by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.
A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
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| Synonyms |
Growth delay, intellectual disability, hepatopathy syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, genetic, syndromic intellectual disability disease characterised by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss. A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. |
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| altLabel | Growth delay, intellectual disability, hepatopathy syndrome (disorder)
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| prefLabel | Growth delay, intellectual disability, hepatopathy syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 1186713004
|
| Effective time | 20211130
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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 | 6011000124106~MAPTARGET~K76.9
447562003~MAPRULE~TRUE
447562003~MAPTARGET~K76.8
447562003~MAPADVICE~ALWAYS P78.8
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPTARGET~F78.8
447562003~MAPADVICE~ALWAYS F71.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS K76.9
447562003~MAPADVICE~ALWAYS P05.9
6011000124106~MAPADVICE~ALWAYS R62.50
447562003~MAPGROUP~1
447562003~MAPTARGET~P05.9
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS K76.8
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~P78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPGROUP~4
447562003~MAPTARGET~F71.9
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~R62.50
900000000000497000~MAPTARGET~XVHGn
447562003~MAPADVICE~ALWAYS F78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPGROUP~3
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVHGn
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| Occurs in | |
| cui | C5568558
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| Has associated morphology |
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