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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
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
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
602761000274113 Syndrom mit Mikrosphärophakie und metaphysärer Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412531001000113 Mikrosphärophakie - metaphysäre Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Short stature disorder true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Connective tissue hereditary disorder false Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Hereditary disorder of the visual system true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Microspherophakia (disorder) true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital dysplasia false Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence Congenital true Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Bone structure true Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence Congenital false Inferred relationship Some 4
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence Congenital false Inferred relationship Some 5
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Lens clear false Inferred relationship Some 5
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Lens clear false Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital smallness false Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital dysplasia false Inferred relationship Some 4
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Bone structure false Inferred relationship Some 4
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital abnormal roundness false Inferred relationship Some 5
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital smallness false Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence Congenital true Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Lens clear true Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site Lens clear true Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence Congenital true Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Congenital abnormal roundness true Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Associated morphology Dysplasia true Inferred relationship Some 3
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Is a Developmental hereditary disorder true Inferred relationship Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Interprets Height / growth measure true Inferred relationship Some 4
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. 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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