FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1208478005: Familial infantile bilateral striatal necrosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4964752019 Familial infantile bilateral striatal necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964753012 Familial infantile bilateral striatal necrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964754018 Familial infantile striatonigral necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964755017 Familial infantile striatonigral degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964756016 Familial IBSN (infantile bilateral striatal necrosis) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399822012 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399823019 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterised by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4964752019 Familial infantile bilateral striatal necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964753012 Familial infantile bilateral striatal necrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964754018 Familial infantile striatonigral necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964755017 Familial infantile striatonigral degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964756016 Familial IBSN (infantile bilateral striatal necrosis) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4964757013 The familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Prognosis is usually poor with patients progressing to spastic quadriparesis followed by death, usually due to infection. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399822012 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399823019 Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterised by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438951001000115 Striatale Nekrose, infantile familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438951001000115 Striatale Nekrose, infantile familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial infantile bilateral striatal necrosis Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile bilateral striatal necrosis Is a Infantile striatonigral degeneration (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile bilateral striatal necrosis Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial infantile bilateral striatal necrosis Has interpretation Slow true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial infantile bilateral striatal necrosis Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile bilateral striatal necrosis Finding site Structure of nigrostriate fiber (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile bilateral striatal necrosis Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile bilateral striatal necrosis Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile bilateral striatal necrosis Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start