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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
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked dominant type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sponastrime dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Yunis-Varon dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mixed sclerosing bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Type III short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dysplasia epiphysealis hemimelica Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Boomerang dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dappled diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Adult fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fronto-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Luton type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Opsismodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile idiopathic generalised osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Scypho-patellar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pseudodiastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital dysplasia of patella Associated morphology False Congenital dysplasia Inferred relationship Some 3
    3-M syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type B Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly syndrome type C Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Fronto-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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