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25283002: Congenital dysplasia (morphologic abnormality)

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

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hajdu-Cheney syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Larsen syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Accessory ossification center morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type E morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fucosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cleidocranial dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Acrodysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Vitamin D-dependent rickets, type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 5 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    I-cell disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, recessive type 4 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, familial joint laxity type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, dominant perinatal lethal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets, type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, Majewski type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Camptomelic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dystrophie thoracique asphyxiante morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Robinow syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasia-osteoectasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Stickler syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dyggve-Melchior-Clausen syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Progressive myositis ossificans morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinemic morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    chondrodystrophie malacique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple exostoses syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dominant type 4 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Salla disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pyknodysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia with bone disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Paralytic calcification / ossification of muscle morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Lethal retarded ossification syndromes morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Short rib polydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, otherwise specified (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta - unclassifiable morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple exostosis syndromes morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple congenital exostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis/diastrophic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudochondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Symphalangism-brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of kidney NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, unspecified morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Other lethal retarded ossification syndromes morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia, unspecified morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Other osteodysplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Other specified osteodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    [EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type I (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type III (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sponastrime dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Acroscyphodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Hobaek type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Maroteaux type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia Hunter-Thompson type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type C (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1

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