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722111004: Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330737013 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Sensorineural hearing loss false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a retard mental false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Congenital hearing disorder false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Osteopenia false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Congenital connective tissue disorder false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site Structure of auditory system (body structure) false Inferred relationship Some 3
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Interprets Hearing false Inferred relationship Some 4
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Interprets entité observable fonctionnelle false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology Osteopenia false Inferred relationship Some 5
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 5
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site Bone structure false Inferred relationship Some 5
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology anomalie du développement false Inferred relationship Some 6
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 6
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site Face structure false Inferred relationship Some 6
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Intellectual disability false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 1
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 2
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site Face structure false Inferred relationship Some 1
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology Osteopenia false Inferred relationship Some 2
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site Bone structure false Inferred relationship Some 2
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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