25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8221000052116 kongenital dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital dysplasi	Is a	kongenital anomali	false	Inferred relationship	Some
kongenital dysplasi	Is a	Dysplasia	false	Inferred relationship	Some
kongenital dysplasi	Is a	medfödd missbildning	false	Inferred relationship	Some
kongenital dysplasi	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteoplastic dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Short rib dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Brachyolmia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Spahr type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
omodysplasi 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Sialic storage disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Fibrochondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Precocious osteodysplasty (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, type IV A (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Craniodiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Schneckenbecken dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Nievergelt's syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cherubism with gingival fibromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Melorheostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Hereditary acroosteolysis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Stuve-Wiedemann dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Sialic acid storage disease, severe infantile type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylometaphyseal dysplasia - Sutcliffe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Fronto-naso-ethmoidal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypochondroplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Immuno-osseous dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia punctata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteoglophonic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Beals auriculo-osteodysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
brakyraki (kort rygg-dysplasi)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
autosomal recessiv spondyloepimetafyseal dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta with normal sclerae, dominant form	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylodysplastic group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
pseudokondroplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pyknodysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Chondrodysplasia punctata, MT type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Bent bone dysplasia group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dermatofibrosis lenticularis disseminata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked dominant type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Desbuquois syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acrodysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Idiopathic multicentric osteolysis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Sponastrime dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Atelosteogenesis type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Achondrogenesis, type II	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Namaqualand hip dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
symfalangi-brakydaktylisyndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
osteodysplastisk primordial kortvuxenhet, typ 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Yunis-Varon dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Congenital exostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysostosis multiplex	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mixed sclerosing bone dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Type III short rib polydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Short rib polydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diaphyseal medullary stenosis with bone malignancy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Lenz-Majewski hyperostosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypochondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteopathia striata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Polyostotic fibrous dysplasia of bone	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Kniest dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Shwachman syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Dysplasia epiphysealis hemimelica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
osteokondrodysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Nail-patella syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Boomerang dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Multiple epiphyseal dysplasia tarda type IIIa	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pachydermoperiostosis - familial	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dappled diaphyseal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Atelosteogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Adult fucosidosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Fronto-frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Osteogenesis imperfecta, type IV B	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Leri's pleonosteosis syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylodysplasia, Luton type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Craniometadiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloenchondrodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
osteodysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
dysplasigrupp med korta revben, med eller utan polydaktyli	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Opsismodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
dysplasi karakteriserad av böjning av skelettben	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
omodysplasi 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Saldino-Mainzer dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8221000052116	kongenital dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)