FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Primary hypogonadism (disorder) true Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 2
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site Lens clear false Inferred relationship Some 2
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 3
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 2
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start