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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
    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
    Spondyloepimetaphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysplasia with defective mineralization Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Axial osteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Disorganized development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hereditary acroosteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Idiopathic hyperphosphatasemia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, perinatal lethal (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepiphyseal dysplasia congenita group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acromesomelic dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata congenita Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Fibrochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metatropic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Infantile cortical hyperostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bone island Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Disorder: ectopic bone tissue, congenital Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Uhl's disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hypermobile Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1

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