Preferred Name | infantile bilateral striatal necrosis | |
Synonyms |
striatal degeneration familial SNDI striatonigral degeneration infantile infantile striatonigral degeneration infantile bilateral striatal necrosis infantile striatonigral necrosis IBSN |
|
Definitions |
Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0015518 |
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database_cross_reference |
NANDO:2200888 NANDO:2100242 icd11.foundation:1947032348 GARD:5040 SCTID:718174008 ICD10CM:G23.2 Orphanet:1576 UMLS:C0795996 MEDGEN:167090 |
|
definition |
Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. |
|
has_exact_synonym |
infantile striatonigral degeneration infantile bilateral striatal necrosis infantile striatonigral necrosis IBSN |
|
has_related_synonym |
striatal degeneration familial SNDI striatonigral degeneration infantile |
|
id |
MONDO:0015518 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
label |
infantile bilateral striatal necrosis |
|
notation |
MONDO:0015518 |
|
prefLabel |
infantile bilateral striatal necrosis |
|
skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0795996 http://identifiers.org/snomedct/718174008 http://identifiers.org/medgen/167090 http://purl.obolibrary.org/obo/Orphanet_1576 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1947032348 |
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treeView | ||
excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017641 |
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subClassOf |