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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
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypophosphataemic rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II without alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Beta-D-mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ectodermal dysplasia of face Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile idiopathic generalised osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diffuse hypoplasia of right ventricle Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia, San Diego type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia, Torrance type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia, Luton type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Type III short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Type IV short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Boomerang dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Omodysplasia I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudodiastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Otospondylomegaepiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal disorder Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Opsismodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked recessive type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, MT type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stuve-Wiedemann dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with defective mineralisation Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Axial osteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hereditary acroosteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic hyperphosphatasaemia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fragilitas ossium congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set

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