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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    190336012 Developmental malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    190337015 Developmental defect en Synonym Active Entire term case insensitive SNOMED CT core module
    190338013 Dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module
    190339017 Anomalous formation en Synonym Active Entire term case insensitive SNOMED CT core module
    190340015 Abnormal development en Synonym Active Entire term case insensitive SNOMED CT core module
    190341016 Malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    1208681014 Developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Chudley Lowry Hoar syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Cerebro-oculo-dento-auriculo-skeletal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Fine Lubinsky syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Hair defect with photosensitivity and intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hall Riggs syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Heart defect and limb shortening syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Heart-hand syndrome type 3 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Short stature with webbed neck and congenital heart disease syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Short stature with webbed neck and congenital heart disease syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lymphedema hypoparathyroidism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Deafness and intellectual disability Martin Probst type syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Dermo-odonto dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Developmental malformation, deafness, dystonia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Hydrolethalus syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cloverleaf skull with multiple congenital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 11
    Deaf blind hypopigmentation syndrome Yemenite type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Heart-hand syndrome type 2 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Dermatoosteolysis Kirghizian type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Oromandibular-limb hypogenesis spectrum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Global developmental delay, osteopenia, ectodermal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Glossopalatine ankylosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Glossopalatine ankylosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Hydrocephalus, cardiac malformation, dense bone syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hydrocephalus, cardiac malformation, dense bone syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Branchiogenic deafness syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Intellectual disability, epilepsy, bulbous nose syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Holmes Gang syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Infection causing congenital anomaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hypertrichosis and acromegaloid facial appearance syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hypertrichosis and acromegaloid facial appearance syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Juberg Hayward syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Juberg Hayward syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Juberg Hayward syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Juberg Marsidi syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Microphthalmia with brain and digit anomaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Puerto Rican infant hypotonia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Puerto Rican infant hypotonia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Puerto Rican infant hypotonia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Schilbach Rott syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Robinow-like syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Glossopalatine ankylosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Goldberg Shprintzen megacolon syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Hypomandibular faciocranial dysostosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Radioulnar synostosis with developmental delay and hypotonia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Robinow-like syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Ostium primum defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Atrial septal defect with endocardial cushion defect, partial type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Persistent ostium secundum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lutembacher's syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Malaligned atrial septum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Double outlet right atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Double outlet left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Congenital atrial septal defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Restrictive interatrial communication with obligatory shunt Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Blepharonasofacial malformation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Limb mammary syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Lymphedema, atrial septal defect, facial changes syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Interatrial communication through coronary sinus orifice Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Thoracic insufficiency syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Klippel Trenaunay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Microphthalmia with linear skin defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Lowry MacLean syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Blepharocheilodontic syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Isotretinoin embryopathy-like syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Isotretinoin embryopathy-like syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Kapur Toriello syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Kapur Toriello syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lethal hemolytic anemia and genital anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6

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