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722378009: Congenital cataract with deafness and hypogonadism 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
3331751018 Congenital cataract with deafness and hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3331752013 Congenital cataract with deafness and hypogonadism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3331753015 Schaap Taylor Baraitser syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract with deafness and hypogonadism syndrome Is a Hypogonadism true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Reproductive system hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 3
Congenital cataract with deafness and hypogonadism syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 4
Congenital cataract with deafness and hypogonadism syndrome Interprets Functional observable false Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Congenital cataract with deafness and hypogonadism syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier 5
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier 6
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of lens of eye false Inferred relationship Existential restriction modifier 6
Congenital cataract with deafness and hypogonadism syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital cataract with deafness and hypogonadism syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier 2
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital cataract with deafness and hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of lens of eye true Inferred relationship Existential restriction modifier 1
Congenital cataract with deafness and hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier 1
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Abnormally opaque structure true Inferred relationship Existential restriction modifier 1
Congenital cataract with deafness and hypogonadism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Congenital cataract with deafness and hypogonadism syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Congenital cataract with deafness and hypogonadism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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