FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

205812004: Congenital malformation syndromes involving limbs (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    315606016 Congenital malformation syndromes involving limbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    591232012 Congenital malformation syndromes involving limbs (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1667931000005114 Kongenit misdannelsessyndrom med involvering af ekstremiteter 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
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Is a Congenital anomaly of limb false Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Occurrence Congenital false Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Finding site Musculoskeletal structure of limb false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology dysgenese false Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Finding site Limb structure false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology kongenit anomali false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Is a Congenital malformation syndrome (disorder) false Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology Kongenit malformation false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Finding site Musculoskeletal structure of limb false Inferred relationship Some 1
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology Kongenit malformation false Inferred relationship Some 1
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Occurrence Congenital false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology dysgenese false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Finding site Musculoskeletal structure of limb false Inferred relationship Some 2
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Occurrence Congenital false Inferred relationship Some 1
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Kongenit misdannelsessyndrom, der involverer ekstremiteter, ikke nærmere specificeret Is a False Kongenit misdannelsessyndrom med involvering af ekstremiteter Inferred relationship Some
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Is a False Kongenit misdannelsessyndrom med involvering af ekstremiteter Inferred relationship Some
    Klippel-Trénaunay-Webers syndrom Is a False Kongenit misdannelsessyndrom med involvering af ekstremiteter Inferred relationship Some
    A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Is a False Kongenit misdannelsessyndrom med involvering af ekstremiteter Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start