FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

721233005: Hypergonadotropic hypogonadism with cataract 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
3324718015 Hypergonadotropic hypogonadism with cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324719011 Hypergonadotropic hypogonadism with cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324720017 Lubinsky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324721018 Cataract and testicular failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402662010 A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402663017 A rare syndromic endocrine disease characterised by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324718015 Hypergonadotropic hypogonadism with cataract syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324718015 Hypergonadotropic hypogonadism with cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324719011 Hypergonadotropic hypogonadism with cataract syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324719011 Hypergonadotropic hypogonadism with cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324720017 Lubinsky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324721018 Cataract and testicular failure syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324721018 Cataract and testicular failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324722013 Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402662010 A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402663017 A rare syndromic endocrine disease characterised by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
529581000274117 Syndrom mit Hypogonadismus und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389881001000110 Hypergonadotroper Hypogonadismus-Katarakt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879121000172119 syndrome de Lubinsky fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920441000172119 syndrome d'hypogonadisme hypergonadotrope-cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879121000172119 syndrome de Lubinsky fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920441000172119 syndrome d'hypogonadisme hypergonadotrope-cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
529581000274117 Syndrom mit Hypogonadismus und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389881001000110 Hypergonadotroper Hypogonadismus-Katarakt-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
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Primary hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start