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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    280471000077112 anomalie congénitale 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 congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Tuberous sclerosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Muscle transfer for claw toe repair Direct morphology False anomalie congénitale Inferred relationship Some 3
    Muscle transfer for claw toe repair Direct morphology False anomalie congénitale Inferred relationship Some 2
    Neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Mixed gonadal dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mixed gonadal dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 4
    Lateral developmental cyst of jaw Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lateral developmental cyst of jaw Associated morphology False anomalie congénitale Inferred relationship Some 2
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie congénitale Inferred relationship Some 2
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False anomalie congénitale Inferred relationship Some 3
    Neurofibromatosis type 2 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurofibromatosis type 2 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurofibromatosis type 1 Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neurofibromatosis type 1 Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epididymis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epididymis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of supraoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of supraoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lack of ossification of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Incomplete ossification of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete ossification of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of back Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of back Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of body cavity Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of body cavity Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of body wall Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of body wall Associated morphology False anomalie congénitale Inferred relationship Some 1
    Maldescent of testis, bilateral Associated morphology False anomalie congénitale Inferred relationship Some 2
    Maldescent of testis, bilateral Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unilateral maldescent of testis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unilateral maldescent of testis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Segmental neurofibromatosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other congenital anomalies of upper leg Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of upper leg Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital sacrococcygeal anomalies NEC Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital sacrococcygeal anomalies NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other phakomatoses, not elsewhere classified Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of optic disc (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hypoplasia of optic disc (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Optic disc structural anomaly (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Optic disc structural anomaly (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Jervell and Lange-Nielsen syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Jervell and Lange-Nielsen syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of mouth Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of mouth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rachischisis with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 4
    Rachischisis with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 5
    Rachischisis with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hydromyelocele with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 6
    Hydromyelocele with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 8
    Pharyngeal pituitary tissue Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pharyngeal pituitary tissue Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital pectus excavatum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital pectus excavatum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atresia of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of eustachian tube Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of eustachian tube Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of mouth Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of mouth Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormal fusion of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormal fusion of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracoceloschisis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracoceloschisis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital malformation of trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Primary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Bronchus picus Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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