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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
    Qazi Markouizos syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Schilbach Rott syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Robinow-like syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Glossopalatine ankylosis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Goldberg Shprintzen megacolon syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Hypomandibular faciocranial dysostosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Radioulnar synostosis with developmental delay and hypotonia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Robinow-like syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ostium primum defect Associated morphology False Developmental abnormality Inferred relationship Some 5
    Atrial septal defect with endocardial cushion defect, partial type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Persistent ostium secundum Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lutembacher's syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Malaligned atrial septum Associated morphology False Developmental abnormality Inferred relationship Some 5
    Double outlet right atrium Associated morphology False Developmental abnormality Inferred relationship Some 5
    Double outlet left atrium Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital atrial septal defect Associated morphology False Developmental abnormality Inferred relationship Some 5
    Restrictive interatrial communication with obligatory shunt Associated morphology False Developmental abnormality Inferred relationship Some 5
    Blepharonasofacial malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    BRESEK syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental abnormality Inferred relationship Some 6
    Say Barber Miller syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Limb mammary syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Interatrial communication through coronary sinus orifice Associated morphology False Developmental abnormality Inferred relationship Some 5
    Thoracic insufficiency syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Klippel Trenaunay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental abnormality Inferred relationship Some 5
    Microphthalmia with linear skin defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    GAPO syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental abnormality Inferred relationship Some 9
    Lowry MacLean syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Blepharocheilodontic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Isotretinoin-like syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Isotretinoin-like syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Kapur Toriello syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Kapur Toriello syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lethal haemolytic anaemia and genital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Isotretinoin-like syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    MEDNIK syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Alymphoid cystic thymic dysgenesis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hypertelorism with microtia and facial clefting syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    DOORS syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Macrocephaly, short stature, paraplegia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Karsch Neugebauer syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Hypogonadism with anosmia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Isolated anterior cervical hypertrichosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Klippel Trenaunay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Johnson neuroectodermal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Kallman syndrome with heart disease Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oculo-palato-cerebral syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oculocerebrofacial syndrome Kaufman type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Oculocerebrofacial syndrome Kaufman type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oculoosteocutaneous syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Odonto-tricho-ungual-digito-palmar syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Book syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Bamforth Lazarus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Bamforth Lazarus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital cataract with hypertrichosis and intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Catel Manzke syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    CEDNIK syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    CEDNIK syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Congenital hereditary facial paralysis with variable hearing loss syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Congenital hereditary facial paralysis with variable hearing loss syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Developmental abnormality Inferred relationship Some 8
    Oculotrichodysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital myogenic ptosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oculogastrointestinal muscular dystrophy Associated morphology False Developmental abnormality Inferred relationship Some 3
    Odonto-tricho-ungual-digito-palmar syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Matthew Wood syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Matthew Wood syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Von Voss-Cherstvoy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Bartsocas Papas syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intellectual disability, developmental delay, contracture syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ectodermal dysplasia with blindness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ectodermal dysplasia with blindness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Fuhrmann syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Galloway Mowat syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Orofaciodigital syndrome type 10 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Orofaciodigital syndrome type 10 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Orofaciodigital syndrome type 5 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Orofaciodigital syndrome type 5 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Orofaciodigital syndrome type 8 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Orofaciodigital syndrome type 8 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Osteosclerosis, ichthyosis, premature ovarian failure syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Overgrowth, macrocephaly, facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Severe X-linked intellectual disability Gustavson type Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ackerman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Auriculoocular anomaly and cleft lip syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Autism and facial port-wine stain syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Double uterus, hemivagina, renal agenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2

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