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

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

Descriptions:

Id Description Lang Type Status Case? Module
5063531018 PCNA-related progressive neurodegenerative photosensitivity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063532013 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063533015 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400050015 A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400051016 A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterised by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063531018 PCNA-related progressive neurodegenerative photosensitivity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063532013 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063533015 Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063547016 A rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and with characteristics of neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400050015 A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400051016 A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterised by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3390651001000112 PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390651001000112 PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom 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
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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