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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/782757004
http://purl.bioontology.org/ontology/SNOMEDCT/782757004
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|---|---|
| Preferred Name | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
| Definitions |
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21.
A rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
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| Synonyms |
Asparagine synthetase deficiency
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. A rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. |
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| altLabel |
Asparagine synthetase deficiency
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)
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| prefLabel | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 782757004
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| Effective time | 20190731
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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
447562003~MAPTARGET~E72.8
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G31.89
900000000000497000~MAPTARGET~XV9uE
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS G93.41
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G31.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPADVICE~ALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q02
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~G93.41
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XV9uE
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| Occurs in | |
| cui | C3809971
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| Has associated morphology |
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