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:

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
Saldino-Mainzer dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Infantile GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metachondromatosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysplasias with significant membranous bone involvement	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Carpal-tarsal osteolysis with nephropathy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Juvenile idiopathic generalized osteoporosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Kniest-Sticklers dysplasigrupp	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Scypho-patellar dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Pseudodiastrophic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Patella dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
3-M syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spheno-frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysostosis of bone of skull	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acromicric dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Achondroplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Brachydactyly syndrome type B (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Cleidocranial dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Baller-Gerold syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Brachydactyly syndrome type C (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Shwachman syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
korta revben-polydaktylisyndrom typ 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Fronto-frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Hypoplastic chondrodystrophy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Leri-Weill dyschondrosteosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
hyperplastisk kondrodystrofi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Craniometaphyseal dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Achondroplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Furst-Ostrums syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Brachydactyly syndrome type E	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Oculodento-osseous dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Craniometaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Craniometaphyseal dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Stickler syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Fronto-malar faciosynostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Madelung's deformity	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Antley-Bixler syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
svår akondroplasi med försenad utveckling och acanthosis nigricans	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
intermaxillopalatinal dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Internasal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Weill-Marchesani syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Congenital onychodysplasia of index fingers (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Camptomelic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Fronto-naso-ethmoidal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrom, dominant typ 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrom, dominant typ 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrom, recessiv typ 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrom, recessiv typ 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase resistant	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase resistant	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, familial joint laxity type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, familial joint laxity type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acrodysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	7
Ehlers-Danlos syndrome, type 5	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 5	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 3	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 3	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Cutis laxa, x-linked	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cutis laxa, x-linked	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Sphenoidal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Tarsal-carpal coalition syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitreoretinal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitreoretinal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Spondyloenchondrodysplasia with immune dysregulation	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Hallermann-Streiff syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Geleophysic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Baller-Gerold syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2

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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
42394016	Congenital dysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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)