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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 anomalie congénitale 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 anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Osteoplastic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia - Maroteaux type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Precocious osteodysplasty (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Melorheostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hereditary acroosteolysis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Otospondylomegaepiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Stuve-Wiedemann dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplastic group Associated morphology False Congenital dysplasia 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 Congenital dysplasia Inferred relationship Some 2
    pseudochondroplasie Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyknodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Chondrodysplasia punctata, MT type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sponastrime dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis type 2 Associated morphology False Congenital dysplasia 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 Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia 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 Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Yunis-Varon dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mixed sclerosing bone dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Type III short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dysplasia epiphysealis hemimelica Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare hereditary patellar dysostosis characterised by 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 Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Boomerang dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False Congenital dysplasia 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 heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dappled diaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Adult fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fronto-frontal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Luton type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Opsismodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3

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