Mondo Disease Ontology

Last uploaded: November 25, 2024
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

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

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_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

treeView

http://purl.obolibrary.org/obo/MONDO_0005559

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0017641

http://purl.obolibrary.org/obo/MONDO_0017662

http://purl.obolibrary.org/obo/MONDO_0015983

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005559

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