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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation syndromes involving limbs Is a Congenital anomaly of limb false Inferred relationship Some
    Congenital malformation syndromes involving limbs Occurrence Congenital false Inferred relationship Some
    Congenital malformation syndromes involving limbs Finding site Musculoskeletal structure of limb false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Associated morphology anomalie du développement false Inferred relationship Some
    Congenital malformation syndromes involving limbs Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
    Congenital malformation syndromes involving limbs Finding site Limb structure false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Associated morphology anomalie congénitale false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Is a Congenital malformation syndrome (disorder) false Inferred relationship Some
    Congenital malformation syndromes involving limbs Associated morphology Congenital malformation false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Finding site Musculoskeletal structure of limb false Inferred relationship Some 1
    Congenital malformation syndromes involving limbs Associated morphology Congenital malformation false Inferred relationship Some 1
    Congenital malformation syndromes involving limbs Occurrence Congenital false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Associated morphology anomalie du développement false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Finding site Musculoskeletal structure of limb false Inferred relationship Some 2
    Congenital malformation syndromes involving limbs Occurrence Congenital false Inferred relationship Some 1
    Congenital malformation syndromes involving limbs Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Congenital malformation syndromes involving limbs Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital malformation syndrome involving limbs NOS Is a False Congenital malformation syndromes involving limbs 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 Congenital malformation syndromes involving limbs Inferred relationship Some
    angiodysplasie ostéodystrophique Is a False Congenital malformation syndromes involving limbs 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 Congenital malformation syndromes involving limbs Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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