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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
5402896017 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by 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
5402897014 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterised by 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
3331751018 Congenital cataract with deafness and hypogonadism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402896017 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by 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
5402897014 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterised by 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
602091000274116 Schaap-Taylor-Baraitser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382061001000116 Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826051000241113 syndrome de Schaap-Taylor-Baraitser fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826061000241111 syndrome de cataracte congénitale, surdité et hypogonadisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826051000241113 syndrome de Schaap-Taylor-Baraitser fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826061000241111 syndrome de cataracte congénitale, surdité et hypogonadisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602091000274116 Schaap-Taylor-Baraitser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382061001000116 Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract with deafness and hypogonadism syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract with deafness and hypogonadism syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract with deafness and hypogonadism syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital cataract with deafness and hypogonadism syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract with deafness and hypogonadism syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract with deafness and hypogonadism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract with deafness and hypogonadism syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract with deafness and hypogonadism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract with deafness and hypogonadism syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract with deafness and hypogonadism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract with deafness and hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract with deafness and hypogonadism syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract with deafness and hypogonadism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital cataract with deafness and hypogonadism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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