FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3321985016 Corneal dystrophy with progressive deafness en Synonym Active Case insensitive SNOMED CT core
3321986015 Harboyan syndrome en Synonym Active Case sensitive SNOMED CT core
3322600012 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3322601011 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Corneal dystrophy and perceptive deafness syndrome Finding site Structure of auditory system true Inferred relationship Some 2
Corneal dystrophy and perceptive deafness syndrome Is a Congenital corneal dystrophy true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Congenital hereditary endothelial dystrophy true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Has interpretation Impaired true Inferred relationship Some 3
Corneal dystrophy and perceptive deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Corneal dystrophy and perceptive deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Corneal dystrophy and perceptive deafness syndrome Finding site Chromosome pair 20 true Inferred relationship Some 1
Corneal dystrophy and perceptive deafness syndrome Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Corneal dystrophy and perceptive deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Corneal dystrophy and perceptive deafness syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Hereditary corneal dystrophy false Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Congenital hearing disorder false Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a Corneal endothelial dystrophy false Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Finding site Ear structure false Inferred relationship Some 2
Corneal dystrophy and perceptive deafness syndrome Interprets Hearing true Inferred relationship Some 3
Corneal dystrophy and perceptive deafness syndrome Interprets Functional observable false Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Associated morphology Dystrophy true Inferred relationship Some 4
Corneal dystrophy and perceptive deafness syndrome Occurrence Congenital true Inferred relationship Some 4
Corneal dystrophy and perceptive deafness syndrome Finding site Structure of corneal endothelium true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start