1228871002: Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome

\Functional finding\Decline in functional status\Decreased hearing\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Functional finding\Hearing finding\Decreased hearing\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5063531018 PCNA-related progressive neurodegenerative photosensitivity syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5063532013 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5063533015 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	4
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5063531018	PCNA-related progressive neurodegenerative photosensitivity syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5063532013	Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5063533015	Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module