FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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) survenue (attribut) congénital true Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome (disorder) survenue (attribut) congénital 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) localisation d'une constatation (attribut) cristallin 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) morphologie associée (attribut) Cataract false Inferred relationship Some 1
Congenital cataract with deafness and hypogonadism syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 1
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 4
Congenital cataract with deafness and hypogonadism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) hypogonadisme true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Congenital cataract true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 3
Congenital cataract with deafness and hypogonadism syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Congenital cataract with deafness and hypogonadism syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Congenital cataract with deafness and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some 5
Congenital cataract with deafness and hypogonadism syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 6
Congenital cataract with deafness and hypogonadism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Congenital cataract with deafness and hypogonadism syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 6
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start