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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
    3330721019 Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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
    531251000274111 Osteochondrodysplastischer Kleinwuchs, Schwerhörigkeit, Retinitis pigmentosa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3436091001000113 Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    948421000172112 syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    948421000172112 syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    531251000274111 Osteochondrodysplastischer Kleinwuchs, Schwerhörigkeit, Retinitis pigmentosa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3436091001000113 Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Autosomal dominant retinitis pigmentosa false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Short stature disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Osteochondrodysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 7
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 8
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Congenital anomaly of retina false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Skeletal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

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