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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
    42394016 Congenital dysplasia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

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

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