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75901008: Congenital anomaly of face (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    126081017 Congenital anomaly of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    126084013 Facial dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    126085014 Facial malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    126086010 Congenital deformity of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    816563019 Congenital anomaly of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly of face Is a Congenital anomaly of head false Inferred relationship Some
    Congenital anomaly of face Is a Disorder of face (disorder) false Inferred relationship Some
    Congenital anomaly of face Occurrence Congenital false Inferred relationship Some
    Congenital anomaly of face Finding site Face structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Preauricular sinus Is a False Congenital anomaly of face Inferred relationship Some
    Preauricular fistula Is a False Congenital anomaly of face Inferred relationship Some
    Otomandibular dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Intermandibular dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Temporo-auro-mandibular dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Zygo-auro-mandibular dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Maxillary dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Maxillo-zygomatic dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Naso-maxillary dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Premaxillo-maxillary dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Internasal dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Fronto-parietal craniofaciosynostosis Is a False Congenital anomaly of face Inferred relationship Some
    Mandibuloacral dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Is a False Congenital anomaly of face Inferred relationship Some
    Macrogenia Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anomaly of lip Is a False Congenital anomaly of face Inferred relationship Some
    Buccal bifurcation cyst Is a False Congenital anomaly of face Inferred relationship Some
    Cerebrofacial dysplasia Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anosmia Is a False Congenital anomaly of face Inferred relationship Some
    syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Congenital anomaly of face Inferred relationship Some
    syndrome de Sjögren primaire avec atteinte multisystémique Is a False Congenital anomaly of face Inferred relationship Some
    syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Congenital anomaly of face Inferred relationship Some
    syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Congenital anomaly of face Inferred relationship Some
    Congenital malformation of the eyebrow Is a False Congenital anomaly of face Inferred relationship Some
    Ash leaf spot, tuberous sclerosis (disorder) Is a False Congenital anomaly of face Inferred relationship Some
    Shagreen patch Is a False Congenital anomaly of face Inferred relationship Some
    Congenital syphilitic rhinitis Is a False Congenital anomaly of face Inferred relationship Some
    Congenital abnormality of oral cavity Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anomaly of nose Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anomaly of mouth Is a False Congenital anomaly of face Inferred relationship Some
    Facial asymmetry Is a False Congenital anomaly of face Inferred relationship Some
    Cross syndrome Is a False Congenital anomaly of face Inferred relationship Some
    Preauricular cyst (disorder) Is a False Congenital anomaly of face Inferred relationship Some
    Preauricular dimple Is a False Congenital anomaly of face Inferred relationship Some
    Sturge-Weber syndrome Is a False Congenital anomaly of face Inferred relationship Some
    Goltz syndrome Is a False Congenital anomaly of face Inferred relationship Some
    Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Is a False Congenital anomaly of face Inferred relationship Some
    Accessory tragus of ear Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anomaly of face bones Is a False Congenital anomaly of face Inferred relationship Some
    Kartagener syndrome Is a False Congenital anomaly of face Inferred relationship Some
    Fordyce's disease Is a False Congenital anomaly of face Inferred relationship Some
    Periodontal Ehlers-Danlos syndrome (disorder) Is a False Congenital anomaly of face Inferred relationship Some
    syndrome de Cayler Is a False Congenital anomaly of face Inferred relationship Some
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Is a False Congenital anomaly of face Inferred relationship Some
    Cherubism Is a False Congenital anomaly of face Inferred relationship Some
    Nasal glial heterotopia Is a False Congenital anomaly of face Inferred relationship Some
    xanthélasma Is a False Congenital anomaly of face Inferred relationship Some
    Nasal encephalocele Is a False Congenital anomaly of face Inferred relationship Some
    Hereditary benign intraepithelial dyskeratosis Is a False Congenital anomaly of face Inferred relationship Some
    Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Is a False Congenital anomaly of face Inferred relationship Some
    Syphilitic saddle nose Is a False Congenital anomaly of face Inferred relationship Some
    coryza syphilitique congénital Is a False Congenital anomaly of face Inferred relationship Some
    Frontonasal dysplasia sequence Is a False Congenital anomaly of face Inferred relationship Some
    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). Is a False Congenital anomaly of face Inferred relationship Some
    Congenital structural abnormality of eyelid Is a False Congenital anomaly of face Inferred relationship Some
    Cleft face Is a False Congenital anomaly of face Inferred relationship Some
    Congenital anomaly of jaw Is a False Congenital anomaly of face Inferred relationship Some
    Facial hemiatrophy Is a False Congenital anomaly of face Inferred relationship Some
    Branchial cleft, cyst or fistula; preauricular sinus Is a False Congenital anomaly of face Inferred relationship Some
    Fistula of congenital auricle Is a False Congenital anomaly of face Inferred relationship Some
    fistule cervico-auriculaire Is a False Congenital anomaly of face Inferred relationship Some
    Congenital absence of chin Is a False Congenital anomaly of face Inferred relationship Some
    Deformity of nasal sinus wall Is a False Congenital anomaly of face Inferred relationship Some
    Congenital perforation of the nasal sinus wall Is a False Congenital anomaly of face Inferred relationship Some
    Preauricular sinus, pit or fistula Is a False Congenital anomaly of face Inferred relationship Some
    Jaw congenital deformities Is a False Congenital anomaly of face Inferred relationship Some
    Vomero-premaxillary faciosynostosis Is a False Congenital anomaly of face Inferred relationship Some
    Lip pits Is a False Congenital anomaly of face Inferred relationship Some
    Congenital distichiasis Is a False Congenital anomaly of face Inferred relationship Some
    Nevus of Ota Is a False Congenital anomaly of face Inferred relationship Some
    Hyperphosphatasemia tarda Is a False Congenital anomaly of face Inferred relationship Some
    Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges. Is a False Congenital anomaly of face Inferred relationship Some
    Congenital absence of eyelash Is a False Congenital anomaly of face Inferred relationship Some
    Horizontal overbite Is a False Congenital anomaly of face Inferred relationship Some
    A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Is a False Congenital anomaly of face Inferred relationship Some
    Distichiasis Is a False Congenital anomaly of face Inferred relationship Some
    Ectopic cilia of eyelid Is a False Congenital anomaly of face Inferred relationship Some
    A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Is a False Congenital anomaly of face Inferred relationship Some
    Cross syndrome Is a False Congenital anomaly of face Inferred relationship Some
    Gingival cyst of newborn Is a False Congenital anomaly of face Inferred relationship Some
    Periodontal Ehlers-Danlos syndrome (disorder) Is a False Congenital anomaly of face Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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