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
Geroderma osteodysplastica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hereditary acroosteolysis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteogenesis imperfecta hos katt	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Carpal-tarsal osteolysis with nephropathy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Namaqualand hip dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets type II with alopecia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
spondyloepimetafyseal dysplasi med slapphet i led	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Berlin syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteokondrodysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteoglophonic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
brakyraki (kort rygg-dysplasi)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
osteodysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Winchester syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Familial articular hypermobility syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-naso-ethmoidal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteopathia striata	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Marshall syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia epiphysealis hemimelica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Epiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mannosidosis, type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[X]Other specified osteochondrodysplasias	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Robinow syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metatropic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Geleophysic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Achondroplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
medfödd ensidig dysplasi av lunga med vaskulära anomalier	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thanatophoric dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Renal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondroectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondroectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cherubism with gingival fibromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Diaphyseal medullary stenosis with bone malignancy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitreoretinal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Vitreoretinal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Saldino-Mainzer dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
svår akondroplasi med försenad utveckling och acanthosis nigricans	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypoplasia of right ventricular inflow tract (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
fibrös dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
progressiv diafyseal dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cerebrofacial dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Cerebrofacial dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Stickler syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	7
Hepatoportal microvascular dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Hereditary mucoepithelial dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Larsen syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oto-palato-digital syndrome, type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Maxillo-zygomatic dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Genochondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteopathia striata with cranial sclerosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
mukolipidos 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Temporo-auro-mandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Achondrogenesis, type IA	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Familial expansile osteolysis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mandibuloacral dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
kondrodysplasi, specificerat på annat sätt	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mannosidosis, type II (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Infantile cortical hyperostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Carpotarsal osteochondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
pseudohypoparatyreoidism och pseudopseudohypoparatyreoidism, typ 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Geleophysic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylodysplasia, San Diego type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylodysplasia, Torrance type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia punctata congenita	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hyperphosphatasia-osteoectasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mannosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysostosis multiplex group	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
medfödd spondyloepifyseal dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Metaphyseal anadysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Miller syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Singleton-Merten syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
brakyolmi, Hobaek-typ	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysosteosclerosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
atelosteogenes eller diastrofisk dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Worth disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acroscyphodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Epiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2

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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)