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


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

Descriptions:

Id Description Lang Type Status Case? Module
3321984017 Corneal dystrophy and perceptive deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3321985016 Corneal dystrophy with progressive deafness en Synonym Active Entire term case insensitive SNOMED CT core module
3321986015 Harboyan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3322600012 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3322601011 Congenital hereditary endothelial dystrophy and perceptive deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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