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722108000: Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3330721019 Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330722014 Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330723016 This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. 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
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Sensorineural hearing loss false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Congenital hearing disorder false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Autosomal dominant retinitis pigmentosa false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Short stature disorder false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Osteochondrodysplasia false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Finding site Structure of auditory system (body structure) false Inferred relationship Some 3
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Interprets Hearing false Inferred relationship Some 4
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Interprets Functional observable false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology Dystrophy false Inferred relationship Some 7
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence Congenital false Inferred relationship Some 7
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Finding site Retinal structure false Inferred relationship Some 7
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 8
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence Congenital false Inferred relationship Some 8
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Finding site Bone structure false Inferred relationship Some 8
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Congenital anomaly of retina false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence Congenital false Inferred relationship Some 1
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence Congenital false Inferred relationship Some 2
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Finding site Retinal structure false Inferred relationship Some 2
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology Dystrophy false Inferred relationship Some 2
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Finding site Bone structure false Inferred relationship Some 1
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology Dysplasia false Inferred relationship Some 1
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Skeletal dysplasia false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Interprets Height / growth measure false Inferred relationship Some 5
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

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