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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
    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 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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    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
    Congenital 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 generalized osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypermobile Ehlers-Danlos syndrome (disorder) 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
    Disorganized 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 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular inflow tract (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diffuse hypoplasia of right ventricle Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis with neurolabyrinthitis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Tricho-dento-osseous syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Naso-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with defective mineralization Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked dominant type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type II (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with increased bone density (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dappled diaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II without alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpotarsal osteochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Axial osteosclerosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tricho-onychodental dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vascular Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Astley-Kendall dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mohr syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cherubism with gingival fibromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutaneous asthenia in dogs AND/OR cats Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greenberg dysplasia (disorder) 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 (foundation metadata concept)

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