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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
170404011 Osteochondrodysplasia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4740571000241118 syndrome d'ostéochondrodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

52 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 Existential restriction modifier (core metadata concept)
Osteochondrodysplasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Osteochondrodysplasia syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Osteochondrodysplasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteochondrodysplasia syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteochondrodysplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteochondrodysplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasias with significant membranous bone involvement Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Osteodysplastic primordial dwarfism Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia group Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Metatropic dysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, Jansen type (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia congenita Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia tarda Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Chondroectodermal dysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Frontometaphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hajdu-Cheney syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Kenny syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal osteosclerotic dysplasia (disorder) Is a False Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloperipheral dysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocarpotarsal synostosis syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Kniest dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Kniest-like syndrome Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a True Osteochondrodysplasia syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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