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105985007: osteochondrodysplasiesyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome

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

Descriptions:

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	gebrekkige ontwikkeling (afwijkende morfologie)	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 (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kozlowski spondylometaphyseal dysplasia	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
spondylo-epimetafysaire dysplasie met gewrichtslaxiteit	Is a	False	Osteochondrodysplasia syndrome	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
chondrodysplasie met kenmerkend fenotype (aandoening)	Is a	False	Osteochondrodysplasia syndrome	Inferred relationship	Some
Metatropic dysplasia	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
syndroom van lymfopenische agammaglobulinemie en dwerggroei met korte extremiteiten	Is a	False	Osteochondrodysplasia syndrome	Inferred relationship	Some
Thanatophoric dysplasia	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
Diaphyseal dysplasia	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	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some
Chondroectodermal dysplasia (disorder)	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
Complex lethal osteochondrodysplasia (disorder)	Is a	True	Osteochondrodysplasia syndrome	Inferred relationship	Some

This concept is not in any reference sets

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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
6706511000146114	osteochondrodysplasiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706521000146116	osteochondrodysplasiesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)