699866005: Progressive bulbar palsy with sensorineural deafness (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Head finding (finding)\Finding of head region\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Upper motor neuron disease\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Brown-Vialetto-Van Laere syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Brown-Vialetto-Van Laere syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Brown-Vialetto-Van Laere syndrome

\Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Brown-Vialetto-Van Laere syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Brown-Vialetto-Van Laere syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Brown-Vialetto-Van Laere syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Multiple cranial nerve lesions and linked syndromes (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Upper motor neuron disease\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Upper motor neuron disease\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Progressive bulbar palsy\Brown-Vialetto-Van Laere syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brown-Vialetto-Van Laere syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome	Finding site	Structure of cranial nerve nucleus	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brown-Vialetto-Van Laere syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome	Is a	Progressive bulbar palsy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brown-Vialetto-Van Laere syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2986053017	Progressive bulbar palsy with sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986081011	Progressive bulbar palsy with sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986109012	Brown-Vialetto-Van Laere syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2986122016	Pontobulbar palsy with deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3881256019	Riboflavin transporter deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986053017	Progressive bulbar palsy with sensorineural deafness (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986053017	Progressive bulbar palsy with sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986081011	Progressive bulbar palsy with sensorineural deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986081011	Progressive bulbar palsy with sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986109012	Brown-Vialetto-Van Laere syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986109012	Brown-Vialetto-Van Laere syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2986122016	Pontobulbar palsy with deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986122016	Pontobulbar palsy with deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3881256019	Riboflavin transporter deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3430911001000119	Riboflavin-Transporter-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430911001000119	Riboflavin-Transporter-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module