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773648002: Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3725382013 Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3725383015 Congenital cataract, hearing loss, severe developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3725384014 Congenital cataract, deafness, severe developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3725385010 Lethal neurodegenerative disorder due to copper transport defect 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 cataract, hearing loss, severe developmental delay syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Congenital cataract, hearing loss, severe developmental delay syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 4
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Developmental delay true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital cataract, hearing loss, severe developmental delay syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier 1
Congenital cataract, hearing loss, severe developmental delay syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 2
Congenital cataract, hearing loss, severe developmental delay syndrome Finding site Structure of lens of eye true Inferred relationship Existential restriction modifier 3
Congenital cataract, hearing loss, severe developmental delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Congenital cataract, hearing loss, severe developmental delay syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier 3
Congenital cataract, hearing loss, severe developmental delay syndrome Associated morphology Abnormally opaque structure true Inferred relationship Existential restriction modifier 3
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Disorder of ear true Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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