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25283002: Congenital dysplasia (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

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

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