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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
    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 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
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Genochondromatosis type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    McCune Albright syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Short rib polydactyly syndrome type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 10
    Bone dysplasia lethal Holmgren type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coxoauricular syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Melhem Fahl syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Long thumb brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Joubert syndrome with Jeune asphyxiating thoracic dystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Non-ossifying fibroma Is a False Congenital dysplasia Inferred relationship Some
    Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bipartite talus (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oro-facial digital syndrome type 13 Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Spondyloperipheral dysplasia with short ulna syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Oro-facial digital syndrome type 12 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Oro-facial digital syndrome type 14 Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Brachydactyly elbow wrist dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Larsen-like syndrome B3GAT3 type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniofaciofrontodigital syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Larsen-like osseous dysplasia, short stature syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia anauxetic type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloperipheral dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    SHOX-related short stature Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Handigodu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Larsen-like syndrome B3GAT3 type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniofaciofrontodigital syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyssegmental dysplasia Silverman Handmaker type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 14 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Dyssegmental dysplasia Silverman Handmaker type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Oro-facial digital syndrome type 12 Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Oro-facial digital syndrome type 13 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Dysplasia of left kidney Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of right kidney Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia with hemimegalencephaly Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia due to collagen 9 anomaly Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Localized cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Isolated focal cortical dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia with miniepiphyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichoodontoonychial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Severe lateral tibial bowing with short stature Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cono-spondylar dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multicentric carpotarsal osteolysis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of lung Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital pulmonary acinar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Otopalatodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2

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