FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

715671000: Brachyolmia type 1 Toledo type (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
    3303371016 An autosomal recessive form of brachyolmia a group of rare genetic skeletal disorders, with features of short stature, short trunk, platyspondyly and corneal opacities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3303369016 Brachyolmia type 1 Toledo type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3303370015 Brachyolmia type 1 Toledo type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Brachyolmia type 1 Toledo type Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Brachyolmia type 1 Toledo type Is a Brachyolmia false Inferred relationship Some
    Brachyolmia type 1 Toledo type Is a Connective tissue hereditary disorder false Inferred relationship Some
    Brachyolmia type 1 Toledo type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Brachyolmia type 1 Toledo type Finding site Musculoskeletal structure of spine false Inferred relationship Some
    Brachyolmia type 1 Toledo type Associated morphology Congenital dysplasia false Inferred relationship Some 3
    Brachyolmia type 1 Toledo type Occurrence Congenital false Inferred relationship Some 3
    Brachyolmia type 1 Toledo type Finding site Bone structure false Inferred relationship Some 3
    Brachyolmia type 1 Toledo type Occurrence Congenital false Inferred relationship Some 2
    Brachyolmia type 1 Toledo type Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Brachyolmia type 1 Toledo type Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Brachyolmia type 1 Toledo type Occurrence Congenital false Inferred relationship Some 1
    Brachyolmia type 1 Toledo type Finding site Bone structure false Inferred relationship Some 1
    Brachyolmia type 1 Toledo type Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Brachyolmia type 1 Toledo type Finding site Musculoskeletal structure of spine false Inferred relationship Some 2

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start