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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
    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
    Hyperphosphatasaemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis 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 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hereditary mucoepithelial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinaemia - 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata with cranial sclerosis 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 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 OS Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II 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 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 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Chondrodysplasia punctata, X-linked recessive type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dyggve-Melchior-Clausen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic dysplasia, type II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial x-linked hypophosphataemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondromatosis with basal ganglia calcification Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Aspartylglucosaminuria Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasaemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Naso-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Robinow syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type I B Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hunter-Thompson dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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