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
Acrofacial dysostosis Kennedy Teebi type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
progressiv diafyseal dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hip dysplasia Beukes type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hip dysplasia Beukes type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Schimke immuno-osseous dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Karsch Neugebauer syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofacial dysostosis Palagonia type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mitral leaflet dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloocular syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Atelosteogenesis type 3 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrom med periventrikulär heterotopi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Book syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofacial dysostosis Rodriguez type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
skelettdysplasi, typ Azouz	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mitral valve dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculootoradial syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Scypho-patellar dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Coxoauricular syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrom, vaskulärliknande typ	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dyschondrosteosis and nephritis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Bone dysplasia lethal Holmgren type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brittle cornea syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysspondyloenchondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Czech dysplasia metatarsal type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloenchondrodysplasia with immune dysregulation	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Johnson neuroectodermal syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
parodontit samtidigt med Ehlers-Danlos syndrom typ 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Dermatofibrosis lenticularis disseminata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Anonychia with bizarre flexural pigmentation	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Camptomelic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Robinow-liknande syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Moynahans syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short stature Brussels type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculotrichodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dacryocystitis and osteopoikilosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrom med periventrikulär heterotopi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Limb mammary syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1

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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)