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720749004: Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321984017 Corneal dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321985016 Corneal dystrophy with progressive deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321986015 Harboyan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322600012 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322601011 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402458010 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402459019 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321984017 Corneal dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321984017 Corneal dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321985016 Corneal dystrophy with progressive deafness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321985016 Corneal dystrophy with progressive deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321986015 Harboyan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322600012 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322600012 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322601011 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322601011 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320415012 A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321968018 A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402458010 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402459019 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
528661000274115 Harboyan-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601681000274117 Syndrom mit Hornhautdystrophie und Schallempfindungs-Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419031001000112 Hornhautdystrophie - Schallempfindungs-Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905061000241119 syndrome de Harboyan fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905071000241110 DCSP - dystrophie cornéenne et surdité de perception fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905081000241112 dystrophie congénitale héréditaire de l'endothélium cornéen avec surdité de perception fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905061000241119 syndrome de Harboyan fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905071000241110 DCSP - dystrophie cornéenne et surdité de perception fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905081000241112 dystrophie congénitale héréditaire de l'endothélium cornéen avec surdité de perception fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
528661000274115 Harboyan-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601681000274117 Syndrom mit Hornhautdystrophie und Schallempfindungs-Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419031001000112 Hornhautdystrophie - Schallempfindungs-Schwerhörigkeit 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
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Hereditary corneal dystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Corneal endothelial dystrophy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Finding site Structure of corneal endothelium true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Congenital dystrophy of cornea (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a Congenital hereditary endothelial dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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