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723625009: Simpson Golabi Behmel syndrome type 2 (disorder)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3425323012 Simpson Golabi Behmel syndrome type 2 (disorder) en Fully specified name Active Case sensitive SNOMED CT core
    3425324018 Simpson Golabi Behmel syndrome type 2 en Synonym Active Case sensitive SNOMED CT core
    3425325017 Lethal variant of Simpson Golabi Behmel syndrome en Synonym Active Initial character case insensitive SNOMED CT core
    3425326016 An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Simpson Golabi Behmel syndrome type 2 Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Simpson Golabi Behmel syndrome type 2 Pathological process Pathological developmental process false Inferred relationship Some 1
    Simpson Golabi Behmel syndrome type 2 Is a Multiple malformation syndrome with early overgrowth false Inferred relationship Some
    Simpson Golabi Behmel syndrome type 2 Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Simpson Golabi Behmel syndrome type 2 Is a X-linked hereditary disease false Inferred relationship Some
    Simpson Golabi Behmel syndrome type 2 Associated morphology Developmental abnormality false Inferred relationship Some 1
    Simpson Golabi Behmel syndrome type 2 Occurrence Congenital false Inferred relationship Some 1
    Simpson Golabi Behmel syndrome type 2 Finding site Face structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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