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722108000: syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening)


    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
    12581881000146113 syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12581891000146110 syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    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
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Sensorineural hearing loss false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Congenital hearing disorder false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Autosomal dominant retinitis pigmentosa false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Short stature disorder false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Osteochondrodysplasia false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Auditory system hereditary disorder false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Finding site Structure of auditory system (body structure) false Inferred relationship Some 3
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Interprets Hearing false Inferred relationship Some 4
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Interprets observatie betreffende functioneren false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Associated morphology Dystrophy false Inferred relationship Some 7
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Occurrence Congenital false Inferred relationship Some 7
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Finding site Retinal structure false Inferred relationship Some 7
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 8
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Occurrence Congenital false Inferred relationship Some 8
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Finding site Bone structure false Inferred relationship Some 8
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Congenital anomaly of retina false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Occurrence Congenital false Inferred relationship Some 1
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Occurrence Congenital false Inferred relationship Some 2
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Finding site Retinal structure false Inferred relationship Some 2
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Associated morphology Dystrophy false Inferred relationship Some 2
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Finding site Bone structure false Inferred relationship Some 1
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Associated morphology Dysplasia false Inferred relationship Some 1
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Skeletal dysplasia false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Developmental hereditary disorder false Inferred relationship Some
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Interprets Height / growth measure false Inferred relationship Some 5
    syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a Congenital hearing loss (disorder) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

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