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
Greenberg dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniodiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia with decreased bone density	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple dislocations with dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Nail-patella syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteodysplastisk primordial kortvuxenhet, typ 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
mukolipidos 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrom, prokollagenproteinasresistent	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysostosis multiplex	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Atelosteogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Salla disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Furst-Ostrums syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cerebellar cortical dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hyperplastisk kondrodystrofi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Desbuquois syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Stuve-Wiedemann dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lethal Kniest-like syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Melnick-Needles syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodystophy NEC	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sphenoidal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Adult GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lethal chondrodysplasia with fragmented bone (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Enchondromatosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cranioectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
pseudokondroplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cutis laxa, x-linked	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Congenital ovarian dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short rib dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Polyostotic fibrous dysplasia of bone	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-malar faciosynostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
atelosteogenes eller diastrofisk dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal anadysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Genochondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hyperphosphatasia-osteoectasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Progressive pseudorheumatoid dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylometaphyseal dysplasia - Sutcliffe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Spahr type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachyolmia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acromicric dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
dysplasi karakteriserad av böjning av skelettben	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kyphomelic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Singleton-Merten syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteopathia striata with cranial sclerosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
symfalangi-brakydaktylisyndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metachondromatosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
omodysplasi 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
kerubism	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Kniest dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oto-palato-digital syndrome, type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrom, typ 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odonto-onycho-dermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Achondrogenesis, type IA	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Curry-Hall syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, type IV B	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acroscyphodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteoplastic dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometaphyseal dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bruck syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Schneckenbecken dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
chondrodysplasia punctata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	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)