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724140002: Microspherophakia with metaphyseal dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3431017014 Microspherophakia with metaphyseal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431018016 Microspherophakia with metaphyseal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431019012 Verloes Van Maldergem de Marneffe syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431020018 A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development. 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
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital abnormal roundness true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) Microspherophakia (disorder) true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital abnormal roundness false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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