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21390004: Developmental anomaly (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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