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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
    Geroderma osteodysplastica (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Berlin syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial articular hypermobility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Marshall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinow syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Progressive diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Hepatoportal microvascular dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Oto-palato-digital syndrome, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oto-palato-digital syndrome, type I Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Maxillo-zygomatic dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Genochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata with cranial sclerosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia, otherwise specified Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Infantile cortical hyperostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Carpotarsal osteochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, San Diego type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Torrance type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia - Hobaek type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acroscyphodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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