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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
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42394016 Congenital dysplasia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Oculomaxillofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oro-facial digital syndrome type 13 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Spondyloperipheral dysplasia with short ulna syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Oro-facial digital syndrome type 12 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Oro-facial digital syndrome type 14 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Oro-facial digital syndrome type 1 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Brachydactyly elbow wrist dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Craniofaciofrontodigital syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Larsen-like osseous dysplasia, short stature syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia anauxetic type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloperipheral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondroectodermal dysplasia with night blindness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    SHOX-related short stature morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Handigodu type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Conductive deafness, ptosis, skeletal anomalies syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Craniofaciofrontodigital syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie dyssegmentaire type Silverman-Handmaker morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 14 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    dysplasie dyssegmentaire type Silverman-Handmaker morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 1 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Trichodermodysplasia and dental alterations syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Oro-facial digital syndrome type 12 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Oro-facial digital syndrome type 13 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Trichodermodysplasia and dental alterations syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Odonto onycho dysplasia with alopecia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Dysplasia of left kidney morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of right kidney morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia with hemimegalencephaly morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie épiphysaire multiple due à une anomalie du collagène 9 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Localized cortical dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Isolated focal cortical dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia with miniepiphyses morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Trichoodontoonychial dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    dysplasie spondylo-épimétaphysaire avec luxations multiples morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Severe lateral tibial bowing with short stature morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cono-spondylar dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multicentric carpotarsal osteolysis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of lung morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital pulmonary acinar dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Otopalatodigital syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Lowry type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    X-linked spondyloepimetaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Tall stature, scoliosis, macrodactyly of great toe syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia Kaitila type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia, type I morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie de la dentine morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia with focal epilepsy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Rhizomelic syndrome Urbach type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia with sclerotic bone syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ectrodactyly polydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypertrichosis cubiti (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Postaxial tetramelic oligodactyly morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Tetramelic monodactyly morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hallux varus, preaxial polysyndactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Axial spondylometaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Teebi Shaltout syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Unilateral dysplastic hip (situation) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Bilateral dysplastic hip morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2

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