FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Case insensitive SNOMED CT core
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal chondrodysplasia with fragmented bone Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Genochondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fibrochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oto-palato-digital syndrome, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odonto-onycho-dermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Curry-Hall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acroscyphodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoplastic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hereditary acroosteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontomicronychial ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia with joint laxity Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Berlin syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Marshall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinow syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1

    Start Previous Page 12 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set

    Back to Start