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767130007: Otopalatodigital syndrome (disorder)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    3664418014 Syndrome with characteristics of deafness, cleft palate and digital anomalies, which is divided into two forms, based on severity: the milder form designated Otopalatodigital syndrome type 1 (OPD1), and the more severe and often lethal form designated Otopalatodigital syndrome type 2 (OPD2). Otopalatodigital syndrome (OPD) is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3664416013 Otopalatodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3664417016 Otopalatodigital syndrome (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
    Otopalatodigital syndrome Occurrence Congenital false Inferred relationship Some 5
    Otopalatodigital syndrome Finding site Face structure false Inferred relationship Some 4
    Otopalatodigital syndrome Is a Osteodysplasi false Inferred relationship Some
    Otopalatodigital syndrome Is a Cleft palate false Inferred relationship Some
    Otopalatodigital syndrome Occurrence Congenital false Inferred relationship Some 4
    Otopalatodigital syndrome Occurrence Congenital false Inferred relationship Some 2
    Otopalatodigital syndrome Is a X-linked hereditary disease (disorder) false Inferred relationship Some
    Otopalatodigital syndrome Occurrence Congenital false Inferred relationship Some 3
    Otopalatodigital syndrome Is a Connective tissue hereditary disorder false Inferred relationship Some
    Otopalatodigital syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
    Otopalatodigital syndrome Is a Hearing loss associated with syndrome false Inferred relationship Some
    Otopalatodigital syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Otopalatodigital syndrome Finding site Limb structure false Inferred relationship Some 1
    Otopalatodigital syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
    Otopalatodigital syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Otopalatodigital syndrome Occurrence Congenital false Inferred relationship Some 1
    Otopalatodigital syndrome Associated morphology dysgenese false Inferred relationship Some 4
    Otopalatodigital syndrome Finding site Face structure false Inferred relationship Some 3
    Otopalatodigital syndrome Finding site Bone structure false Inferred relationship Some 2
    Otopalatodigital syndrome Finding site Ear structure (body structure) false Inferred relationship Some 1
    Otopalatodigital syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 2
    Otopalatodigital syndrome Finding site Ear structure (body structure) false Inferred relationship Some 5
    Otopalatodigital syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
    Otopalatodigital syndrome Finding site Palatal structure false Inferred relationship Some 4
    Otopalatodigital syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
    Otopalatodigital syndrome Finding site Palatal structure false Inferred relationship Some 3
    Otopalatodigital syndrome Finding site Limb structure false Inferred relationship Some 5
    Otopalatodigital syndrome Associated morphology dysgenese false Inferred relationship Some 5
    Otopalatodigital syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Otopalatodigital syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
    Otopalatodigital syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Otopalatodigital syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    Otopalatodigital syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Otopalatodigital syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
    Otopalatodigital syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. Is a False Otopalatodigital syndrome Inferred relationship Some
    A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. Is a False Otopalatodigital syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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