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278710006: Short rib dysplasia group (with or without polydactyly) (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    415711010 Short rib dysplasia group (with or without polydactyly) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    671901010 Short rib dysplasia group (with or without polydactyly) (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2997441000005114 kort costa-dysplasi-gruppen (med eller uden polydaktyli) da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Is a Skeletal dysplasia false Inferred relationship Some
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Finding site Skeletal system structure false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Occurrence Congenital false Inferred relationship Some
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology Dysplasia false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Finding site Bone structure false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology kongenit dysplasi false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Finding site Bone structure false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology kongenit dysplasi false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Occurrence Congenital false Inferred relationship Some 2
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Finding site Bone structure false Inferred relationship Some 2
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Associated morphology kongenit dysplasi false Inferred relationship Some 2
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Occurrence Congenital false Inferred relationship Some 1
    kort costa-dysplasi-gruppen (med eller uden polydaktyli) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Type III short rib polydactyly syndrome Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Type IV short rib polydactyly syndrome Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Polydaktyli med neonatal kondrodystrofi, type I Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Chondroectodermal dysplasia Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Short rib-polydactyly syndrome, Majewski type Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Short rib polydactyly syndrome Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Short rib dysplasia Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some
    Short rib-polydactyly syndrome, Majewski type Is a False kort costa-dysplasi-gruppen (med eller uden polydaktyli) Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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