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

27330009: Short rib-polydactyly syndrome, non-Majewski type (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    45694017 Short rib-polydactyly syndrome, non-Majewski type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    45695016 Short-rib syndrome, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    483501012 Type I short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    483502017 Saldino Noonan short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    757884010 Short rib-polydactyly syndrome, non-Majewski type (disorder) en Fully specified name 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
    Short rib-polydactyly syndrome, non-Majewski type Is a Congenital anomaly of rib false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Is a Polydactyly false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Is a A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Is a Short rib dysplasia group (with or without polydactyly) false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Dysplasia false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Finding site Skeletal system structure false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure of rib false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Occurrence Congenital false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Finding site Digit structure false Inferred relationship Some 3
    Short rib-polydactyly syndrome, non-Majewski type Finding site Connective tissue false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Finding site Musculoskeletal structure of limb false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology anomalie du développement false Inferred relationship Some
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Supernumerary structure false Inferred relationship Some 3
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Congenital dysplasia false Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology anomalie congénitale false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure false Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure of rib false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Congenital dysplasia false Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure false Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Supernumerary structure false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Finding site Digit structure false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology anomalie congénitale false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Occurrence Congenital false Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology anomalie du développement false Inferred relationship Some 4
    Short rib-polydactyly syndrome, non-Majewski type Finding site Limb structure false Inferred relationship Some 4
    Short rib-polydactyly syndrome, non-Majewski type Occurrence Congenital false Inferred relationship Some 5
    Short rib-polydactyly syndrome, non-Majewski type Occurrence Congenital false Inferred relationship Some 6
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology anomalie du développement false Inferred relationship Some 6
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure of rib false Inferred relationship Some 6
    Short rib-polydactyly syndrome, non-Majewski type Finding site Bone structure false Inferred relationship Some 5
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology Congenital dysplasia false Inferred relationship Some 5
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Short rib-polydactyly syndrome, Majewski type Is a False Short rib-polydactyly syndrome, non-Majewski type Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start