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25283002: Congenital dysplasia (morphologic abnormality)


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

    Descriptions:

    Id Description Lang Type Status Case? Module Reference Sets
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core Description inactivation indicator reference set: Concept non-current

    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 anomaly false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital acetabular dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia of eye (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Regional odontodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shell teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral dysplastic hip Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bilateral dysplastic hip 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
    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 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica (disorder) 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 (disorder) 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
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypophosphatemic 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 generalized 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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