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724280001: Hypospadias, hypertelorism, coloboma, deafness 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
    3499908012 A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3498183010 Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3498184016 Hypospadias, hypertelorism, coloboma, deafness syndrome en Synonym (core metadata concept) 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
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hypertelorism false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Mixed conductive AND sensorineural hearing loss false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Coloboma of eyelid false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Congenital hearing disorder false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hearing loss associated with syndrome false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Short stature disorder false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Connective tissue hereditary disorder false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hereditary disorder of the urinary system false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hereditary disorder of the visual system false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Hypospadias (disorder) false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Ear structure false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Interprets Hearing false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Interprets entité observable fonctionnelle false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 6
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 7
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 8
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Upper eyelid structure false Inferred relationship Some 8
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology Congenital malposition false Inferred relationship Some 6
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Structure of urethral meatus false Inferred relationship Some 6
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology anomalie du développement false Inferred relationship Some 7
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Sphenoid bone structure false Inferred relationship Some 7
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 8
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Lesion of upper eyelid false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 1
    Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Hypospadias, hypertelorism, coloboma, deafness syndrome Is a Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. false Inferred relationship Some
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 3
    Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence Congenital false Inferred relationship Some 2
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Sphenoid bone structure false Inferred relationship Some 2
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Structure of urethral meatus false Inferred relationship Some 3
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology Congenital malposition false Inferred relationship Some 3
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
    Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site Upper eyelid structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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