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719304005: Spondylometaphyseal dysplasia Schmidt type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315922014 Spondylometaphyseal dysplasia Schmidt type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315923016 Spondylometaphyseal dysplasia Schmidt type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315924010 Spondylometaphyseal dysplasia with severe genu valgum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315925011 Spondylometaphyseal dysplasia Algerian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402068010 Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402069019 Spondylometaphyseal dysplasia, Schmidt type is characterised by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. 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
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Metaphyseal chondrodysplasia false Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Short stature disorder false Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Spondylometaphyseal dysplasia Schmidt type (disorder) Occurrence Congenital false Inferred relationship Some 2
Spondylometaphyseal dysplasia Schmidt type (disorder) Finding site Bone structure false Inferred relationship Some 2
Spondylometaphyseal dysplasia Schmidt type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Finding site Bone structure true Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Occurrence Congenital true Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Spondylometaphyseal dysplasia true Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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