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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
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Accessory ossification centre Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Vitamin D-dependent rickets, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Jeune thoracic dystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinow syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial x-linked hypophosphataemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyggve-Melchior-Clausen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Progressive myositis ossificans Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodystrophy malacia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple exostoses syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pyknodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasaemia with bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Paralytic calcification / ossification of muscle Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia OS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta - unclassifiable Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple exostosis syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of kidney NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other specified osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia NOS 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
    Osteogenesis imperfecta type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type III Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sponastrime dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acroscyphodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Hobaek type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hunter-Thompson dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type C Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set

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