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722378009: Congenital cataract with deafness and hypogonadism 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
3331751018 Congenital cataract with deafness and hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331752013 Congenital cataract with deafness and hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331753015 Schaap Taylor Baraitser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331754014 An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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