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, 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 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
    Triphalangeal thumbs with onychodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with hair-tooth-nail-sweating defect morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome tricho-dento-osseux (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Odonto-onycho-dermal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hypohidrosis with neurolabyrinthitis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Salamon's syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Kohlschutter's syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Oral-facial-digital syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth defects morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Pachyonychia congenita type II of Jackson-Lawler (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Hypodontia and nail dysgenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Hypohidrotic X-linked ectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Orofacial-digital syndrome III morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Schinzel-Giedion syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Chondroectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Hypohidrosis-diabetes insipidus syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with hair-nail defect morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia-ocular malformation syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Sandman-Andra syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oculodentodigital syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Schoepf-Schulz-Passage syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Tricho-onychodental dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Pulmonary valve dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ectrodactyly-ectodermal dysplasia-clefting syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Bilateral dysplastic hip morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital ectodermal dysplasia of face morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Hay-Wells syndrome of ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Arteriohepatic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie congénitale d'une hanche morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Saldino-Mainzer dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bilateral renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Bilateral renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Congenital ovarian dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Curly hair, ankyloblepharon, nail dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with hair-nail defect morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Tricho-oculodermovertebral syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Arteriohepatic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie épiphysaire multiple morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Robinow syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Temporo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Cerebrofacial dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Congenital ectodermal dysplasia of face morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Olive dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pulmonary valve dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Wolcott-Rallison dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oculodento-osseous dysplasia - severe type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Oculodento-osseous dysplasia - mild type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Multiple epiphyseal dysplasia tarda type IIIa morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hepatoportal microvascular dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hereditary mucoepithelial dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mohr syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Odontotrichomelic syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Orofacial-digital syndrome III morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Orofacial-digital syndrome IV morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Oral-facial-digital syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Oculodento-osseous dysplasia - severe type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 9
    Oculodento-osseous dysplasia - mild type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 9
    Ehlers-Danlos syndrome classic type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome classic type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Weismann Netter syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mirror hands and feet co-occurrent with nasal defect (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Rhizomelic dysplasia of Patterson Lowry type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Toriello type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Gnathodiaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mesomelic dysplasia Savarirayan type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloocular syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Renal dysplasia co-occurrent with megalocystis and sirenomelia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ulna metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple non-ossifying fibromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ischio-vertebral syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia type 1 Toledo type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Multiple epiphyseal dysplasia type 4 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Multiple epiphyseal dysplasia type 4 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    dysplasie épiphysaire multiple type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dysplasie épiphysaire multiple type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Multiple epiphyseal dysplasia type 5 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Multiple epiphyseal dysplasia type 5 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome améloonychohypohidrotique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ischio-vertebral syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Skeletal dysplasia with epilepsy and short stature syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Brachydactylous dwarfism Mseleni type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Micromelic spondyloepimetaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Ectodermal dysplasia with natal teeth Turnpenny type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysplasia of head of femur Meyer type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Smith McCort dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dyssegmental dysplasia with glaucoma syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5

    Start Previous Page 17 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start