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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
5403242017 Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. 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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Microspherophakia (disorder) true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Lens clear false Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Lens clear false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Bone structure false Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Congenital abnormal roundness false Inferred relationship Some 5
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) Associated morphology Congenital smallness false Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence Congenital 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) Associated morphology Congenital abnormal roundness true Inferred relationship Some 2
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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