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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
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Otopalatodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Multiple epiphyseal dysplasia Lowry type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    X-linked spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metaphyseal chondrodysplasia Kaitila type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dentin dysplasia, type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dentin dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kortikale Dysplasie-fokale Epilepsie-Syndrom Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Rhizomelic syndrome Urbach type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ectrodactyly polydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypertrichosis cubiti (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Postaxial tetramelic oligodactyly Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Holoprosencephaly with caudal dysgenesis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Tetramelic monodactyly (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hallux varus, preaxial polysyndactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Axial spondylometaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Parietal foramina with clavicular hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Absent radius, anogenital anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pilodental dysplasia, refractive errors syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Ectodermal dysplasia syndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Thrombocythemia with distal limb defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Weismann Netter syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculodentodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Nail-patella syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dysplasia of head of femur Meyer type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hall Riggs syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Trichothiodystrophy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Genochondromatosis type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Gnathodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Parastremmatic dwarfism (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Brachydactylous dwarfism Mseleni type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    CHST3-related skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Mesomelic dysplasia Kantaputra type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cleidorhizomelic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Spondyloepimetaphyseal dysplasia Shohat type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ulna metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dermo-odonto dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondyloepimetaphyseal dysplasia Missouri type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ackerman syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Truncal valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondylometaphyseal dysplasia Schmidt type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cerebrofacial dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Skeletal dysplasia with intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Diaphanospondylodysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lethal recessive chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondylocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Catel Manzke syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    12q14 microdeletion syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cranioosteoarthropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    cheiro-spondylo-enchondromatose Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lethal Larsen-like syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Eiken syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Choroidal atrophy and alopecia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Primary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

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