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38022006: Congenital abnormal roundness (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
63407015 Congenital abnormal roundness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770206015 Congenital abnormal roundness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital abnormal roundness Is a Congenital abnormal shape false Inferred relationship Some
Congenital abnormal roundness Is a Abnormal shape (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Weill-Marchesani syndrome (disorder) Associated morphology True Congenital abnormal roundness Inferred relationship Some 3
Spherophakia Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Anterior lentiglobus Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Posterior lentiglobus Associated morphology False Congenital abnormal roundness Inferred relationship Some 1
Lentiglobus (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 1
Spherophakia Associated morphology False Congenital abnormal roundness Inferred relationship Some 1
Anterior lentiglobus Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Posterior lentiglobus Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
Weill-Marchesani syndrome (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 3
Lentiglobus (disorder) Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
Posterior lentiglobus Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Anterior lentiglobus Associated morphology False Congenital abnormal roundness Inferred relationship Some 3
Lentiglobus (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Spherophakia Associated morphology False Congenital abnormal roundness Inferred relationship Some 3
Anterior lentiglobus Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 5
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. Associated morphology False Congenital abnormal roundness Inferred relationship Some 5
Weill-Marchesani syndrome (disorder) Associated morphology False Congenital abnormal roundness Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology False Congenital abnormal roundness Inferred relationship Some 5
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. Associated morphology True Congenital abnormal roundness Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology True Congenital abnormal roundness Inferred relationship Some 2
Microspherophakia (disorder) Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
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. Associated morphology True Congenital abnormal roundness Inferred relationship Some 3
Bilateral spherophakia Associated morphology True Congenital abnormal roundness Inferred relationship Some 1
Bilateral spherophakia Associated morphology True Congenital abnormal roundness Inferred relationship Some 2
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. Associated morphology True Congenital abnormal roundness Inferred relationship Some 1

This concept is not in any reference sets

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