254063003: Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378212017 Autosomal recessive spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644903018 Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

378212017 Autosomal recessive spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378212017 Autosomal recessive spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

378213010 Irapa type spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

644903018 Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

644903018 Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive spondyloepimetaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia	Is a	Spondyloepimetaphyseal disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive spondyloepimetaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	Is a	False	Autosomal recessive spondyloepimetaphyseal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set