FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Limb mammary syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    DOORS syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Joubert syndrome with orofaciodigital defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Joubert syndrome with orofaciodigital defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Multiple epiphyseal dysplasia type 4 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Multiple epiphyseal dysplasia type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Multiple epiphyseal dysplasia type 5 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharocheilodontic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    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) 2
    Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hip dysplasia Beukes type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Scholte syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Johnson neuroectodermal syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oculootoradial syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    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) 2
    Book syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ballard syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Catel Manzke syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ballard syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Autosomal recessive popliteal pterygium syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculotrichodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Skeletal dysplasia with intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sacral dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lumbosacral agenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Fuhrmann syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oro-facial digital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Oro-facial digital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Oro-facial digital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Ossification anomaly with psychomotor developmental delay syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 8
    Osteocraniostenosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dysspondyloenchondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare, genetic, developmental defect during embryogenesis disorder characterised by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Optic disc dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Frontonasal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Fuhrmann syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oro-facial digital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Oro-facial digital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Oro-facial digital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Parastremmatic dwarfism (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Pai syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 9
    Ackerman syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. 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) 4
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Polyvalvular heart disease syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Polyvalvular heart disease syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Stern Lubinsky Durrie syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Trichothiodystrophy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    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) 2
    Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Patterson Stevenson Fontaine syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Patterson Stevenson Fontaine syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Schimke immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    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) 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome 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) 2
    Craniolenticulosutural dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Atelosteogenesis type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Atelosteogenesis type 3 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Autosomal dominant omodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Autosomal recessive omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7

    Start Previous Page 17 of 21 Next End

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    SAME AS association reference set (foundation metadata concept)

    Back to Start