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1263463009: Rhizomelic dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5168760012 Rhizomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168761011 Rhizomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168762016 Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rhizomelic dysplasia (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Rhizomelic dysplasia (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
Rhizomelic dysplasia (disorder) Is a Congenital anomaly of limb false Inferred relationship Some
Rhizomelic dysplasia (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Rhizomelic dysplasia (disorder) Interprets Limb length true Inferred relationship Some 2
Rhizomelic dysplasia (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Rhizomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Rhizomelic dysplasia (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Rhizomelic dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Rhizomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Rhizomelic dysplasia (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Rhizomelic syndrome Urbach type Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Cleidorhizomelic syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Langer mesomelic dysplasia syndrome Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Multiple epiphyseal dysplasia Lowry type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Omodysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Smith McCort dysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Regressive spondylometaphyseal dysplasia Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Some

This concept is not in any reference sets

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