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
oto-palato-digitalt syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Lowry type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia Kaitila type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dentin dysplasia, type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dentin dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dentin dysplasia with sclerotic bone syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ectrodactyly polydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Tetramelic monodactyly	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hallux varus, preaxial polysyndactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Axial spondylometaphyseal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Teebi Shaltout syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Teebi Shaltout syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Parietal foramina with clavicular hypoplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Absent radius, anogenital anomalies syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pilodental dysplasia, refractive errors syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Ectodermal dysplasia syndactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Thrombocythemia with distal limb defect (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Weismann Netter syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodentodigital syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Nail-patella syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Dysplasia of head of femur Meyer type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hall Riggs syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pelviscapular dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Genochondromatosis type 2 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Brachydactylous dwarfism Mseleni type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mesomelic dysplasia Kantaputra type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dermo-odonto dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ackerman syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
trunkalklaffdysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Upington disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Schmidt type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cerebrofacial dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Miller syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypoplastic chondrodystrophy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diaphanospondylodysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lethal recessive chondrodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculoosteocutaneous syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofacial dysostosis Catania type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
mikromeli enligt Fryn	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata Toriello type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia wormian bone type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acrofrontofacionasal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cranioosteoarthropathy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cleidocranial dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
dyssegmental dysplasi med glaukom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lethal Larsen-like syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Eiken syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hyperplastisk kondrodystrofi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Heart-hand syndrome type 3 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
fraktursyndrom med vinklad tibia, radiell anomali och osteopeni	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Grant syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Choroidal atrophy and alopecia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Primary renal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pelvis shoulder dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acrofacial dysostosis Kennedy Teebi type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1

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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
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)