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SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1332508004
http://purl.bioontology.org/ontology/SNOMEDCT/1332508004
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| Preferred Name | CIMDAG syndrome |
| Definitions |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.
A rare multiple congenital anomalies/dysmorphic syndrome characterised by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anaemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.
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| Synonyms |
CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome
CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. A rare multiple congenital anomalies/dysmorphic syndrome characterised by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anaemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
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| altLabel | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome
CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome
Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder)
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| prefLabel | CIMDAG syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 1332508004
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| Effective time | 20240501
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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~MAPGROUP~1
447562003~CORRELATIONID~447561005
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q04.8
447562003~MAPADVICE~ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000497000~MAPTARGET~XVNJg
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVNJg
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| Occurs in | |
| cui | C5543287
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| Has associated morphology |
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