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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia Is a Congenital anomaly false Inferred relationship Some
    Congenital dysplasia Is a Dysplasia false Inferred relationship Some
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Some
    Congenital dysplasia Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Otopalatodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Lowry type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked spondyloepimetaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia Kaitila type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cortical dysplasia with focal epilepsy syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rhizomelic syndrome Urbach type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dentin dysplasia with sclerotic bone syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectrodactyly polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypertrichosis cubiti (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Postaxial tetramelic oligodactyly Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Tetramelic monodactyly Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hallux varus, preaxial polysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Axial spondylometaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Imperforate oropharynx, costovertebral anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Parietal foramina with clavicular hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Absent radius, anogenital anomalies syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia syndactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Thrombocythemia with distal limb defect (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Weismann Netter syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodentodigital syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Multiple epiphyseal dysplasia Al-Gazali type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Dysplasia of head of femur Meyer type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hall Riggs syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichothiodystrophy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pelviscapular dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Genochondromatosis type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Gnathodiaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Parastremmatic dwarfism (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Taurodontia with absent teeth and sparse hair syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactylous dwarfism Mseleni type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia Kantaputra type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cleidorhizomelic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondyloepimetaphyseal dysplasia Shohat type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ulna metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dermo-odonto dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thymic, renal, anal, lung dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Missouri type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ackerman syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Truncal valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Upington disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia Schmidt type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Skeletal dysplasia with intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphanospondylodysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal recessive chondrodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculoosteocutaneous syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylocamptodactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Catel Manzke syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant spondylocostal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Toriello type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometadiaphyseal dysplasia wormian bone type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    12q14 microdeletion syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioosteoarthropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cheirospondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal Larsen-like syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Eiken syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Heart-hand syndrome type 3 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Grant syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Choroidal atrophy and alopecia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Primary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pelvis shoulder dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1

    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