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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) Congenital glaucoma (disorder) true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) Microspherophakia (disorder) true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) Congenital abnormal roundness false Inferred relationship Some 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) morphologie associée (attribut) Congenital abnormal roundness true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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