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724090001: Neuroectodermal endocrine syndrome (disorder)

    Status: retired, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3430530014 Neuroectodermal endocrine syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    3430531013 Neuroectodermal endocrine syndrome en Synonym Active Case insensitive SNOMED CT core
    3430532018 Oerter Friedman Anderson syndrome en Synonym Active Case sensitive SNOMED CT core
    3430533011 This syndrome has characteristics of the combination of endocrine and neuroectodermal abnormalities. These abnormalities include low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four siblings from Myanmar. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Neuroectodermal endocrine syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Neuroectodermal endocrine syndrome Occurrence Congenital false Inferred relationship Some 1
    Neuroectodermal endocrine syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
    Neuroectodermal endocrine syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Finding site Ectoderm structure false Inferred relationship Some 1
    Neuroectodermal endocrine syndrome Is a Multiple system malformation syndrome false Inferred relationship Some
    Neuroectodermal endocrine syndrome Is a Congenital ectodermal defect false Inferred relationship Some
    Neuroectodermal endocrine syndrome Is a Disorder of endocrine system false Inferred relationship Some
    Neuroectodermal endocrine syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Occurrence Congenital false Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Finding site Structure of endocrine system false Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
    Neuroectodermal endocrine syndrome Occurrence Congenital false Inferred relationship Some 3
    Neuroectodermal endocrine syndrome Finding site Ectoderm structure false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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