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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
    Cole-Carpenter dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Whyte Hemingway carpal tarsal phalangeal osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dento-oculocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dyschondroplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salamon's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fried's tooth and nail syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital dysplasia of patella Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Scypho-patellar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greither type of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kirman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mixed sclerosing bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Senter syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Orofacial-digital syndrome III Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tricho-oculodermovertebral syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Microcephalic osteodysplastic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schoepf-Schulz-Passage syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral dysplastic hip Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontotrichomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sandman-Andra syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Temporo-aural dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Regional odontodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Developmental hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermaxillo-palatine dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Flynn-Aird syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral dysplastic hip Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile idiopathic generalised osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ectodermal dysplasia of face Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Basan syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hypochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichodental syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-nail defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular inflow tract Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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    SAME AS association reference set

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