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105985007: Osteochondrodysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170404011 Osteochondrodysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576952012 Osteochondrodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4740571000241118 syndrome d'ostéochondrodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

53 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteochondrodysplasia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Osteochondrodysplasia syndrome Occurrence Congenital false Inferred relationship Some
Osteochondrodysplasia syndrome Associated morphology Congenital malformation false Inferred relationship Some
Osteochondrodysplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Osteochondrodysplasia syndrome Associated morphology anomalie du développement false Inferred relationship Some 1
Osteochondrodysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteochondrodysplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Autosomal recessive spondyloepimetaphyseal dysplasia Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Dysplasias with significant membranous bone involvement Is a True Osteochondrodysplasia syndrome Inferred relationship Some
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Osteodysplastic primordial dwarfism Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Metatropic dysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Metaphyseal chondrodysplasia, Jansen type Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Thanatophoric dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Craniometaphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Atelosteogenesis (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Chondroectodermal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Frontometaphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Hajdu-Cheney syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Kenny syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Is a False Osteochondrodysplasia syndrome Inferred relationship Some
Spondyloperipheral dysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Spondylocarpotarsal synostosis syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Kniest-Stickler dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Kniest dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Lethal Kniest-like syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Some
A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. Is a True Osteochondrodysplasia syndrome Inferred relationship Some

This concept is not in any reference sets

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