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25283002: Congenital dysplasia (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
    42394016 Congenital dysplasia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

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

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