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

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    Reference Sets

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