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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
12719291000172116 syndrome GEMSS (glaucoma, ectopia lentis, microspherophakia, stiff joints, short stature) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12719301000172115 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) Belgian module (core metadata concept)
4849861000172114 syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4849871000172117 GEMSS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Congenital glaucoma true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a Microspherophakia (disorder) true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Lens clear false Inferred relationship Some 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Lens clear false Inferred relationship Some 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal roundness false Inferred relationship Some 5
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 6
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology Congenital abnormal roundness true Inferred relationship Some 2
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) Is a Developmental hereditary disorder true Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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