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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
    Osteoplastic dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brachyolmia - Maroteaux type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Short rib dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brachyolmia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Spahr type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Omodysplasi I Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Sialic storage disease (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Precocious osteodysplasty (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta, type IV A Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Craniodiaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Schneckenbecken dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Nievergelt's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Cherubism with gingival fibromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Melorheostosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hereditary acroosteolysis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Otospondylomegaepiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta type I (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Stuve-Wiedemann dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Sialic acid storage disease, severe infantile type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Fronto-naso-ethmoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypochondroplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Immuno-osseous dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Geroderma osteodysplastica Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Beals auriculo-osteodysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brakyraki Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Autosomal recessiv spondyloepimetafyseal dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylodysplastic group Associated morphology False kongenit dysplasi Inferred relationship Some 2
    A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pseudokondroplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pyknodysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Chondrodysplasia punctata, MT type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Bent bone dysplasia group Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Desbuquois syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Acrodysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Idiopathic multicentric osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Sponastrime dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Atelosteogenesis type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Achondrogenesis, type II Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Namaqualand hip dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Symfalangi-brakydaktyli-syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Osteodysplastisk primordial dværgvækst, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Yunis-Varon dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Congenital exostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysostosis multiplex Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mixed sclerosing bone dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Type III short rib polydactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Short rib polydactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Lenz-Majewski hyperostosis syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypochondrogenesis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteopathia striata Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Polyostotic fibrous dysplasia of bone Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Kniest dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Shwachman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dysplasia epiphysealis hemimelica Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteokondrodysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Osteodysplastic primordial dwarfism Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Boomerang dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Multipel epifyseal dysplasia tarda, type 3a Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Pachydermoperiostosis - familial Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dappled diaphyseal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Atelosteogenesis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Adult fucosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Fronto-frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Osteogenesis imperfecta, type IV B (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondyloepiphyseal dysplasia tarda Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylodysplasia, Luton type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Craniometadiaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Menkes kinky-hair syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondyloenchondrodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteodysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Opsismodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Knoglekrumningsdysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Omodysplasi II Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Saldino-Mainzer dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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