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
spondyloepimetafyseal dysplasi med slapphet i led	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteodysplastisk primordial kortvuxenhet, typ 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia with decreased bone density	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta type IIB	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteoporosis with pseudoglioma	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bruck syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Singleton-Merten syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia with defective mineralization	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia with increased bone density (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysosteosclerosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteosclerosis - Stanescu type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Axial osteosclerosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteomesopyknos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteopathia striata with cranial sclerosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Endosteal hyperostoses	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Worth disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pachydermoperiostosis - familial	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometaphyseal dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodento-osseous dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodento-osseous dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dyschondroplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteoglophonic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
fibrös dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Idiopathic osteolyses	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hereditary acroosteolysis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Carpal-tarsal osteolysis with nephropathy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Winchester syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Torg type osteolysis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Familial expansile osteolysis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Enchondromatosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Idiopathic hyperphosphatasemia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplastic group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
dysplasigrupp med korta revben, med eller utan polydaktyli	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kniest-Sticklers dysplasigrupp	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bent bone dysplasia group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Idiopathic multicentric osteolysis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
pseudohypoparatyreoidism och pseudopseudohypoparatyreoidism, typ 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sialic storage disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysostosis multiplex group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acromesomelic dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, type IV B	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, type IV A (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia tarda type IIIa	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysostosis of bone of skull	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Melnick-Needles syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lenz-Majewski hyperostosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypoplastic chondrodystrophy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Congenital ovarian dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata congenita	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Achondrogenesis, type IB	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Vascular Ehlers-Danlos syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sclerosteosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Leri-Weill dyschondrosteosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Juvenile GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrom, typ 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Nail-patella syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metatropic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Achondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Infantile cortical hyperostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
enostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectopic bone tissue, congenital	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
korta revben-polydaktylisyndrom typ 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Uhl's disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Geleophysic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Schmid type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thanatophoric dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypermobile Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Greig cephalopolysyndactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Nievergelt's syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Polyostotic fibrous dysplasia of bone	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1

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Reference Sets

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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)