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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
    Orofacial-digital syndrome III Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Berlin syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Tricho-oculodermovertebral syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kirman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dentookulokutant syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sandman-Andra syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with nail defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trifalangeale tommelfingre med onykodystrofi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypohidrosis with neurolabyrinthitis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Flynn-Aird syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Curry-Hall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichodental syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Laryngoonykokutant syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mohr syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Schinzel-Giedion syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Senter syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Marshall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Tricho-dento-osseous syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pachyonychia congenita syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Moynahans syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Acrocephalosyndactyly type V (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Johanson-Blizzard syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hallermann-Streiff syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pachyonychia congenita type III of Schafer-Brunauer (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Temporo-aural dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Temporo-aural dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Maxillo-zygomatic dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Maxillo-zygomatic dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Naso-maxillary dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Naso-maxillary dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    intermaksillo-palatinum-dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    intermaksillo-palatinum-dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    præmaksillomaksillær dystostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    præmaksillomaksillær dystostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Internasal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Internasal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Fronto-malar faciosynostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fronto-malar faciosynostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Sphenoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sphenoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Wolcott-Rallison dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1

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