Link to this page
SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1187114007
http://purl.bioontology.org/ontology/SNOMEDCT/1187114007
|
|---|---|
| Preferred Name | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
| Definitions |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.
|
| Synonyms |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. |
|---|---|
| altLabel | Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)
|
| prefLabel | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 1187114007
|
| Effective time | 20211130
|
| Active | 1
|
| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~M26.09
6011000124106~MAPADVICE~ALWAYS M26.09
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS F70 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000497000~MAPTARGET~XVHM6
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS F91.9
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~F91.9
6011000124106~MAPADVICE~ALWAYS B99.9
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~4
6011000124106~MAPTARGET~F70
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~B99.9
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.0
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XVHM6
|
| Occurs in | |
| cui | C5568801
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties: