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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
    4120811000005110 kongenit dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit dysplasi Is a kongenit anomali false Inferred relationship Some
    kongenit dysplasi Is a Dysplasia false Inferred relationship Some
    kongenit dysplasi Is a Kongenit malformation false Inferred relationship Some
    kongenit dysplasi Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Spondyloepimetafyseal dysplasi med løshed i led Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastisk primordial dværgvækst, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bruck syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with defective mineralization Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with increased bone density Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteomesopyknose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Endosteal hyperostoses (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Worth disease Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pachydermoperiostosis - familial Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dyskondroplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteoglophonic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fibrøs dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Idiopathic osteolyses Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Winchester syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Torg type osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Enchondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Idiopathic hyperphosphatasemia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kniest-Stickler-dysplasigruppe Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudohypoparatyroidisme og pseudopseudohypoparatyroidisme, type I Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sialic storage disease (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multipel epifyseal dysplasia tarda, type 3a Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    kongenit chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sclerosteosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Leri-Weill dyschondrosteosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Juvenile GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos' syndrom, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Achondrogenesis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Infantile cortical hyperostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Enostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectopic bone tissue, congenital Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Polydaktyli med neonatal kondrodystrofi, type I Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Uhl's disease Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1

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