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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Case insensitive SNOMED CT core
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    X-linked mandibulofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly and arterial hypertension syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    EEM syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Odontochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Splenogonadal fusion, limb defect, micrognathia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Cerebellar ataxia and ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Zlotogora Ogur syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fountain syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome 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
    Verloes Bourguignon syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypertelorism Teebi type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pachyonychia congenita type III of Schafer-Brunauer 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odonto-tricho-ungual-digito-palmar syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachyonychia congenita type II of Jackson-Lawler 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Orofaciodigital syndrome type 11 Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pyknoachondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib polydactyly syndrome Saldino Noonan type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Autosomal dominant brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Familial osteodysplasia Anderson type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial osteodysplasia Anderson type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Genevieve type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dahlberg Borer Newcomer syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Roifman syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrodysplasia scoliosis 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 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 Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Deafness with onychodystrophy syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopetrosis hypogammaglobulinaemia syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fibroblast growth factor receptor 2-related bent bone dysplasia 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 fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopsathyrosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Temporo-aural dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maxillo-zygomatic dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Naso-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermaxillo-palatine dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Premaxillo-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Internasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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    SAME AS association reference set

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