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416671000: Microspherophakia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2546881013 Microspherophakia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2549194014 Microspherophakia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5281941000241118 microsphérophakie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
612391000274117 Mikrosphärophakie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microspherophakia (disorder) Is a Microphakia true Inferred relationship Some
Microspherophakia (disorder) Is a Spherophakia true Inferred relationship Some
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 2
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 1
Microspherophakia (disorder) Occurrence Congenital false Inferred relationship Some
Microspherophakia (disorder) Associated morphology Congenital smallness false Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology Congenital abnormal roundness false Inferred relationship Some 2
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 2
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 1
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 2
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 1
Microspherophakia (disorder) Finding site Lens clear true Inferred relationship Some 1
Microspherophakia (disorder) Finding site Lens clear true Inferred relationship Some 2
Microspherophakia (disorder) Occurrence Congenital false Inferred relationship Some 3
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 3
Microspherophakia (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 3
Microspherophakia (disorder) Associated morphology Congenital smallness false Inferred relationship Some 4
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 4
Microspherophakia (disorder) Occurrence Congenital false Inferred relationship Some 5
Microspherophakia (disorder) Finding site Lens clear false Inferred relationship Some 5
Microspherophakia (disorder) Occurrence Congenital false Inferred relationship Some 4
Microspherophakia (disorder) Associated morphology Congenital abnormal roundness false Inferred relationship Some 5
Microspherophakia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology Congenital abnormal roundness true Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Microspherophakia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microspherophakia (disorder) Occurrence Congenital true Inferred relationship Some 1
Microspherophakia (disorder) Occurrence Congenital true Inferred relationship Some 2
Microspherophakia (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Microspherophakia (disorder) Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a True Microspherophakia (disorder) Inferred relationship Some
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Is a True Microspherophakia (disorder) Inferred relationship Some
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. Is a True Microspherophakia (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

REFERS TO concept association reference set

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