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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
    Præaurikulær 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-auromandibulær dysostose Is a False Congenital anomaly of face Inferred relationship Some
    Maxillary dysostosis (disorder) 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
    præmaksillomaksillær dystostose Is a False Congenital anomaly of face Inferred relationship Some
    Internasal dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Frontoparietal kraniofaciosynostose Is a False Congenital anomaly of face Inferred relationship Some
    Mandibuloacral dysostosis Is a False Congenital anomaly of face Inferred relationship Some
    Kohlschutter's syndrome 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
    primært Sjögrens syndrom med involvering af flere organer/systemer Is a False Congenital anomaly of face Inferred relationship Some
    primært Sjögrens syndrom med multisysteminvolvering Is a False Congenital anomaly of face Inferred relationship Some
    sekundært Sjögrens syndrom med involvering af flere organer/systemer Is a False Congenital anomaly of face Inferred relationship Some
    sekundært Sjögrens syndrom med multisysteminvolvering Is a False Congenital anomaly of face Inferred relationship Some
    Congenital malformation of the eyebrow (disorder) Is a False Congenital anomaly of face Inferred relationship Some
    Ash leaf spot, tuberous sclerosis 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 (disorder) 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 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' syndrom Is a False Congenital anomaly of face Inferred relationship Some
    Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance. 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
    Caylers kardiofaciale syndrom Is a False Congenital anomaly of face Inferred relationship Some
    A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. Is a False Congenital anomaly of face Inferred relationship Some
    kerubisme Is a False Congenital anomaly of face Inferred relationship Some
    Nasal glial heterotopia Is a False Congenital anomaly of face Inferred relationship Some
    xantom på øjenlåg 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
    A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Is a False Congenital anomaly of face Inferred relationship Some
    Syphilitic saddle nose Is a False Congenital anomaly of face Inferred relationship Some
    Kongenit syfilitisk rinit 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
    Ansigtsspalte 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
    brankialfure, -cyste eller -fistel; præaurikulær 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
    cervikoaural fistel 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
    præaurikulær sinus, fordybning eller fistel Is a False Congenital anomaly of face Inferred relationship Some
    Kongenitte kæbedeformiteter Is a False Congenital anomaly of face Inferred relationship Some
    Vomero-premaxillary faciosynostosis Is a False Congenital anomaly of face Inferred relationship Some
    læbefordybninger 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
    Kohlschutter's syndrome 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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