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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
    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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    X-linked mandibulofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly and arterial hypertension syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Kohlschutter's syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia type 1 Toledo type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Larsen syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Acropectorovertebral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypertelorism Teebi type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pachyonychia congenita type III of Schafer-Brunauer (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Odonto-tricho-ungual-digito-palmar syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Joubert syndrome with Jeune asphyxiating thoracic dystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Filippi syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pachyonychia congenita type II of Jackson-Lawler (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Long thumb brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrodysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oro-facial digital syndrome type 11 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pyknoachondrogenesis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Short rib polydactyly syndrome type I (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    brachyolmie autosomique dominante morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mandibuloacral dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Familial osteodysplasia Anderson type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Familial osteodysplasia Anderson type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Bieganski type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia Golden type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie spondylo-épimétaphysaire type Geneviève morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lymphedema hypoparathyroidism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Roifman syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrodysplasia scoliosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylo-megaepiphyseal-metaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pyknodysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Deafness with onychodystrophy syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteopetrosis hypogammaglobulinemia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Peripheral dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Temtamy preaxial brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Brachytelephalangic chondrodysplasia punctata (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive cutis laxa type 2B morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    syndrome de dysplasie osseuse terminale-défauts de pigmentation morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Skeletal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bilateral renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Unilateral renal dysplasia (situation) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypochondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metachondromatosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypochondrogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteopsathyrosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Craniodiaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Otomandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Zygo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Temporo-aural dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Maxillary dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Maxillo-zygomatic dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Naso-maxillary dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Intermaxillo-palatine dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Premaxillo-maxillary dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Internasal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fronto-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fronto-malar faciosynostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sphenoidal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1

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