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699870002: Severe achondrolasia with developmental delay and acanthosis nigricans (disorder)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    2985982011 SADDAN - Severe achondrolasia with developmental delay and acanthosis nigricans en Synonym Active Only initial character case insensitive SNOMED CT core module
    2986025017 Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    2986056013 SADDAN - dysplasia en Synonym Active Only initial character case insensitive SNOMED CT core module
    2986127010 Severe achondrolasia with developmental delay and acanthosis nigricans en Synonym Active Entire term case insensitive SNOMED CT core module
    2988868011 SSB - skeleton-skin-brain syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Acanthosis nigricans false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Achondroplasia false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Hereditary disorder of the integument false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence Congenital false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Skin structure false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Bone structure false Inferred relationship Existential restriction modifier 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Growth alteration false Inferred relationship Existential restriction modifier 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence Congenital false Inferred relationship Existential restriction modifier 1
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Bone structure false Inferred relationship Existential restriction modifier 1
    Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence Congenital false Inferred relationship Existential restriction modifier 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence Congenital false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Bone structure false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Growth alteration false Inferred relationship Existential restriction modifier 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Structure of integumentary system false Inferred relationship Existential restriction modifier 1
    Severe achondrolasia with developmental delay and acanthosis nigricans Has interpretation Abnormal false Inferred relationship Existential restriction modifier 4
    Severe achondrolasia with developmental delay and acanthosis nigricans Interprets Keratinization, function false Inferred relationship Existential restriction modifier 4
    Severe achondrolasia with developmental delay and acanthosis nigricans Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 1
    Severe achondrolasia with developmental delay and acanthosis nigricans Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Is a Functional finding false Inferred relationship Existential restriction modifier
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Dysplasia false Inferred relationship Existential restriction modifier 3
    Severe achondrolasia with developmental delay and acanthosis nigricans Finding site Skeletal system structure false Inferred relationship Existential restriction modifier 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence Congenital false Inferred relationship Existential restriction modifier 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier 5
    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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