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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
    4120811000005110 kongenit dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit dysplasi Is a kongenit anomali false Inferred relationship Some
    kongenit dysplasi Is a Dysplasia false Inferred relationship Some
    kongenit dysplasi Is a Kongenit malformation false Inferred relationship Some
    kongenit dysplasi Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Robinson nail dystrophy-deafness syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dentookulokutant syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Berlin syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Mohr syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Basan syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Johanson-Blizzard syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Odontotrichomelic syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Ectodermal dysplasia with nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Kirman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia with sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Pachyonychia congenita syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Ectodermal dysplasia with tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Flynn-Aird syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Laryngoonykokutant syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Kongenit ektodermal dysplasi af ansigtet Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Greither type of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Fried's tooth and nail syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Pachyonychia congenita type III of Schafer-Brunauer (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Senter syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Orofacial-digital syndrome IV Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichodental syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Marshall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Moynahans syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Odonto-onychial dysplasia with alopecia Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Olive dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Curry-Hall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dermodental dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Trifalangeale tommelfingre med onykodystrofi Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Tricho-dento-osseous syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hypohidrosis with neurolabyrinthitis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Salamon's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Kohlschutter's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth defects Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Hypodontia and nail dysgenesis Associated morphology False kongenit dysplasi Inferred relationship Some 7
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Orofacial-digital syndrome III Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Schinzel-Giedion syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Chondroectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Ectodermal dysplasia with hair-nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Sandman-Andra syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Oculodentodigital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Schoepf-Schulz-Passage syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Tricho-onychodental dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Pulmonary valve dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Bilateral dysplastic hip Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kongenit ektodermal dysplasi af ansigtet Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Arteriohepatic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Congenital hip dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Renal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Saldino-Mainzer dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bilateral renal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Bilateral renal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Congenital ovarian dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Ectodermal dysplasia with hair-nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Tricho-oculodermovertebral syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Arteriohepatic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Temporo-auro-mandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Cerebrofacial dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Kongenit ektodermal dysplasi af ansigtet Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Olive dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pulmonary valve dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Short rib dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Wolcott-Rallison dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 8
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 8
    Multipel epifyseal dysplasia tarda, type 3a Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hepatoportal microvascular dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mohr syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 5

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    Reference Sets

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