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
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Campomelia Cumming type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Heart-hand syndrome type 2 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Heart-hand syndrome Slovenian type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
McCune Albright syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
X-linked mandibulofacial dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Kohlschutter's syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
brakyolmi typ 1, Toledotyp	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
syndrom med paraplegi, brakydaktyli och konformad epifys	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Larsen syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acropectorovertebral dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypertelorism Teebi type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oto-palato-digital syndrome, type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Stern Lubinsky Durrie syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Filippi syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pachyonychia congenita type II of Jackson-Lawler (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Long thumb brachydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acrodysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Oro-facial digital syndrome type 11 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pyknoachondrogenesis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Autosomal dominant brachyolmia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mandibuloacral dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Familial osteodysplasia Anderson type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Familial osteodysplasia Anderson type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
spondyloepimetafyseal dysplasi, Bieganski-typ	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Roifman syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acrodysplasia scoliosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Spondylo-megaepiphyseal-metaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pyknodysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Deafness with onychodystrophy syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Peripheral dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Temtamy preaxial brachydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Brachytelephalangic chondrodysplasia punctata (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	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)