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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1367656002
http://purl.bioontology.org/ontology/SNOMEDCT/1367656002
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|---|---|
| Preferred Name | SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome |
| Definitions |
A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.
A rare genetic, syndromic intellectual disability syndrome characterised by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.
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| Synonyms |
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients. A rare genetic, syndromic intellectual disability syndrome characterised by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients. |
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| altLabel | Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder)
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome
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| prefLabel | SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 1367656002
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| Effective time | 20250701
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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
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XVPun
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVPun
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| cui | C5816806
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