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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
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic dysplasia, type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 2
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal chondrodysplasia with fragmented bone Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Temporo-aural dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with defective mineralisation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Axial osteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic rickets Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepimetaphyseal disorder Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Greenberg dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cole-Carpenter dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasaemia with bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Diaphyseal dysplasia with anaemia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Astley-Kendall dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Type IV short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Beta-D-mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type III Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metatropic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Premaxillo-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoplastic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia - Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fibrochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Precocious osteodysplasty Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal chondrodysplasia, Sedaghatian type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Melorheostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hereditary acroosteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Otospondylomegaepiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Stuve-Wiedemann dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Whyte Hemingway carpal tarsal phalangeal osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyknodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Chondrodysplasia punctata, MT type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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