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
Mohr syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Odontotrichomelic syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Oral-facial-digital syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	9
Oculodento-osseous dysplasia - mild type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	9
Ehlers-Danlos syndrome classic type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome classic type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Weismann Netter syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mirror hands and feet co-occurrent with nasal defect (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloocular syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Selig-Benacerraf-Greenes syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
multipel lokalisation av icke-benbildande fibromatos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ischio-vertebral syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
brakyolmi typ 1, Toledotyp	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 4 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 4 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 5 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ischio-vertebral syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
mikromeli enligt Fryn	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	8
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysplasia of head of femur Meyer type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
dyssegmental dysplasi med glaukom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Spondylocamptodactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Heide syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal dominant brachyolmia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Heide syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Mitral valve dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mitral leaflet dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
trunkalklaffdysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Congenital dysplasia of cardiac valve (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic 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	3
Defects of tubular bones and spine (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acromesomelic dysplasia Maroteaux type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Oro-facial digital syndrome type 11 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	8
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia Reardon type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Upington disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Brittle cornea syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Brittle cornea syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Kimberley type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Short stature Brussels type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Pyknoachondrogenesis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Progressive non-infectious anterior vertebral fusion (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pelvis shoulder dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pelvis shoulder dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Pelviscapular dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondylometaphyseal dysplasia Schmidt type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Lethal recessive chondrodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Lethal Larsen-like syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Lelis syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Mesomelic dysplasia Kantaputra type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
X-linked mandibulofacial dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3

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Reference Sets

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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)