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722450007: Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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
3332186014 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332187017 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332188010 GEMSS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332189019 GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402938015 A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402939011 A rare genetic, syndromic eye disorder characterised by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332186014 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332186014 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332187017 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332187017 Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332188010 GEMSS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332189019 GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332190011 Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402938015 A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402939011 A rare genetic, syndromic eye disorder characterised by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
602161000274112 GEMSS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393141001000111 Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266051000241111 syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266061000241114 syndrome de glaucome, ectopie du cristallin, sphérophakie, raideur articulaire et petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266051000241111 syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266061000241114 syndrome de glaucome, ectopie du cristallin, sphérophakie, raideur articulaire et petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602161000274112 GEMSS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393141001000111 Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-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
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Angeborenes Glaukom true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Microspherophakia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Existential restriction modifier (core metadata concept) 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal roundness (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal roundness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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