702350003: Spondyloepimetaphyseal dysplasia, Strudwick type (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, Strudwick type

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepimetaphyseal dysplasia, Strudwick type

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepimetaphyseal dysplasia, Strudwick type

\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, Strudwick type
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepimetaphyseal dysplasia, Strudwick type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
2995130013	Dappled metaphysis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3008581017	Spondyloepimetaphyseal dysplasia, Strudwick type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3008635013	Spondyloepimetaphyseal dysplasia, Strudwick type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3008691019	SEMD - spondyloepimetaphyseal dysplasia, Strudwick type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3008722011	Strudwick syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3675631000052115	spondyloepimetafysdysplasi, Strudwick-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia, Strudwick type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, Strudwick type	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, Strudwick type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set