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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (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
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cerebro-facio-thoracic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    CHIME syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    3MC syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 11
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Craniosynostosis and intracranial calcification syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Craniosynostosis Boston type Associated morphology False Developmental abnormality Inferred relationship Some 6
    Cystic leucoencephalopathy without megalencephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cervical hypertrichosis and peripheral neuropathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cernunnos-XLF deficiency Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cerebrooculonasal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cerebrooculonasal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Fountain syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Frank-Ter Haar syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Brain calcification Rajab type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Craniosynostosis Boston type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ehlers-Danlos syndrome musculocontractural type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Amaurosis hypertrichosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital bilateral internal tibial torsion Associated morphology False Developmental abnormality Inferred relationship Some 3
    Craniofacial conodysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Choroidal atrophy and alopecia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Fibular dimelia diplopodia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Filippi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Craniofacial dyssynostosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    EEM syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Congenital agenesis of brainstem nuclei Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ragged placenta Associated morphology False Developmental abnormality Inferred relationship Some 1
    Brachydactyly of hand Associated morphology False Developmental abnormality Inferred relationship Some
    Synbrachydactyly of hand Associated morphology False Developmental abnormality Inferred relationship Some
    Brachyphalangia of toe Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital penoscrotal transposition Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital penoscrotal transposition Associated morphology False Developmental abnormality Inferred relationship Some 2
    Chudley Lowry Hoar syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    CLAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    CLAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    CLAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    CLAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    CODAS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Fine Lubinsky syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hair defect with photosensitivity and intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hall Riggs syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Heart defect and limb shortening syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Heart-hand syndrome type 3 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Short stature with webbed neck and congenital heart disease syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Short stature with webbed neck and congenital heart disease syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Dahlberg Borer Newcomer syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Deafness and intellectual disability Martin Probst type syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Dermo-odonto dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Developmental malformation, deafness, dystonia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hydrolethalus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cloverleaf skull with multiple congenital anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 11
    Deaf blind hypopigmentation syndrome Yemenite type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Congenital anomalies of tongue, mouth and pharynx Associated morphology False Developmental abnormality Inferred relationship Some 1
    Heart-hand syndrome type 2 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Dermatoosteolysis Kirghizian type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Odontochondrodysplasia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology False Developmental abnormality Inferred relationship Some 9
    Oromandibular-limb hypogenesis spectrum Associated morphology False Developmental abnormality Inferred relationship Some 6
    Global developmental delay, osteopenia, ectodermal defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Glossopalatine ankylosis Associated morphology False Developmental abnormality Inferred relationship Some 5
    Glossopalatine ankylosis Associated morphology False Developmental abnormality Inferred relationship Some 7
    Beemer Ertbruggen syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Beemer Ertbruggen syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Branchiogenic deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hernandez Aguirre Negrete syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental abnormality Inferred relationship Some 7
    Holmes Gang syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Infection causing congenital anomaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hypertrichosis and acromegaloid facial appearance syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypertrichosis and acromegaloid facial appearance syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    GAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Juberg Hayward syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Juberg Hayward syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Juberg Hayward syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Juberg Marsidi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Microphthalmia with brain and digit anomaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    Qazi Markouizos syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Qazi Markouizos syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Qazi Markouizos syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6

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