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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
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sandman-Andra syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kniest-Stickler-dysplasigruppe Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 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
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Temporo-aural dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Regional odontodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepiphyseal dysplasia tarda Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Congenital hip dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False kongenit dysplasi Inferred relationship Some 1
    intermaksillo-palatinum-dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudohypoparatyroidisme og pseudopseudohypoparatyroidisme, type I Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vitamin D-dependent rickets, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Maffucci syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Flynn-Aird syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bilateral dysplastic hip Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Juvenile idiopathic generalized osteoporosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kongenit ektodermal dysplasi af ansigtet Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pachydermoperiostosis - familial Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Basan syndrome (disorder) 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
    Dermatofibrosis lenticularis disseminata Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hypochondrogenesis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichodental syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Idiopathic osteolyses Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mandibuloacral dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypoplasia of right ventricular inflow tract (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anden osteodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Diffuse hypoplasia of right ventricle Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Endosteal hyperostoses (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudo-Hurler polydystrophy Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dyskondroplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypohidrosis with neurolabyrinthitis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Oculodento-osseous dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Tricho-dento-osseous syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteomesopyknose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Naso-maxillary dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Worth disease Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with defective mineralization Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta 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 1
    X-linked Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mannosidosis, type II Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Frontometaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with increased bone density Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos' syndrom, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dappled diaphyseal dysplasia (disorder) 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
    Vitamin D-dependent rickets type II without alopecia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spheno-frontal dysostosis 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
    Hypoplasia of right ventricular outflow tract Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Tricho-onychodental dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Astley-Kendall dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudohypoparathyroidism type I A Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Congenital exostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multiple synostosis syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mohr syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Geographic retinal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cherubism with gingival fibromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kutan asteni hos hunde OG/ELLER katte 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
    Greenberg dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1

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