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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
    Renal dysplasia with limb defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    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) 4
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Primary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Acrofrontofacionasal dysostosis (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) 4
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acrocraniofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acropectorovertebral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Doughnut lesion of calvaria and bone fragility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Campomelia Cumming type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Acrocraniofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrofacial dysostosis Palagonia type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Acrofacial dysostosis Palagonia type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrofacial dysostosis Rodriguez type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Bone dysplasia Azouz type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Camptodactyly syndrome Guadalajara type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Acrofacial dysostosis Rodriguez type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Coxopodopatellar syndrome (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) 2
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Czech dysplasia metatarsal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Chondrodysplasia with disorder of sex development syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 8
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 9
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    syndrome d'Ehlers-Danlos type vasculaire-like Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Eiken syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Filippi syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Angel-shaped phalangoepiphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    syndrome d'Ehlers-Danlos type vasculaire-like Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Frank-Ter Haar syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 8
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Choroidal atrophy and alopecia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Holt-Oram syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Hall Riggs syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    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) 5
    Oliver syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dacryocystitis and osteopoikilosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Dermo-odonto dysplasia (disorder) 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) 2
    Caudal regression syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Heart-hand syndrome Slovenian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Heart-hand syndrome type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 10
    Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 9
    Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dermatoosteolysis Kirghizian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Hip dysplasia Beukes type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hypomandibular faciocranial dysostosis is a cranial malformation characterised by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
    Robinow-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dermatoosteolysis Kirghizian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7

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    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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