FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  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
    42394016 Congenital dysplasia, NOS en Synonym (core metadata concept) Inactive 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 est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    syndrome coxo-podo-patellaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cranioosteoarthropathy (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Craniofacial conodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Czech dysplasia metatarsal type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome with periventricular heterotopia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Ehlers-Danlos syndrome cardiac valvular type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome cardiac valvular type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 9
    Ehlers-Danlos syndrome musculocontractural type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome musculocontractural type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Ehlers-Danlos syndrome vascular-like type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Eiken syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Filippi syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    dysplasie phalango-épiphysaire en ailes d'anges morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Ehlers-Danlos syndrome musculocontractural type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos syndrome vascular-like type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Frank-Ter Haar syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Craniofacial conodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Ehlers-Danlos syndrome with periventricular heterotopia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Choroidal atrophy and alopecia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    syndrome de Holt-Oram morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos type progéroïde morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome d'Ehlers-Danlos type progéroïde morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Hall Riggs syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Heart defect and limb shortening syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Heart-hand syndrome type 3 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Postaxial polydactyly and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dacryocystitis and osteopoikilosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Lymphedema hypoparathyroidism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Dermo-odonto dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Diaphanospondylodysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Caudal regression syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Heart defect and limb shortening syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome Slovenian type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Aplasia of fibula and ectrodactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 10
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 9
    Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dermato-ostéolyse type Kirghize morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    dysplasie ectodermique hidrotique type Halal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Hip dysplasia Beukes type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hypomandibular faciocranial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Scalp, ear, nipple syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Robinow-like syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Coloboma of macula with brachydactyly type B syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dermato-ostéolyse type Kirghize morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Acrofrontofacionasal dysostosis type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Limb mammary syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Lipodystrophy, intellectual disability, deafness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Acrofrontofacionasal dysostosis type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Joubert syndrome with orofaciodigital defect (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Joubert syndrome with orofaciodigital defect (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Multiple epiphyseal dysplasia type 4 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie épiphysaire multiple type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia type 5 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Blepharocheilodontic syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie épiphysaire multiple type Al-Gazali morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Beighton type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hip dysplasia Beukes type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Karsch Neugebauer syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Johnson neuroectodermal syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oculootoradial syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Book syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ballard syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Catel Manzke syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ballard syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Autosomal recessive popliteal pterygium syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oculotrichodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia with intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Sacral dysgenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Lumbosacral agenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome de Furhmann morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    syndrome oro-facio-digital type 5 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Oro-facial digital syndrome type 8 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Ossification anomaly with psychomotor developmental delay syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Osteocraniostenosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Dyschondrosteosis and nephritis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Dysspondyloenchondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Familial caudal dysgenesis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3

    Start Previous Page 19 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start