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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
    Oculomaxillofacial dysostosis 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pectus excavatum, macrocephaly, dysplastic nails syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Brachydactyly elbow wrist dysplasia 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniofaciofrontodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Larsen-like osseous dysplasia, short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia anauxetic type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloperipheral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly elbow wrist dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondroectodermal dysplasia with night blindness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short stature homeobox 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyssegmental dysplasia Silverman Handmaker type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia with night blindness syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 1 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 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 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
    Localised cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Isolated focal cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia with miniepiphyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 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 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 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Otopalatodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Lowry type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia Kaitila type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia with focal epilepsy syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rhizomelic syndrome Urbach type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia with sclerotic bone syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectrodactyly polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypertrichosis cubiti Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Postaxial tetramelic oligodactyly Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Holoprosencephaly with caudal dysgenesis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Tetramelic monodactyly Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hallux varus, preaxial polysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Axial spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome 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

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    Reference Sets

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