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


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

    Descriptions:

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


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) constatation fonctionnelle false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) dysplasie false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) congénital false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Acanthosis nigricans false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Achondroplasia false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) congénital false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) modification de la croissance false Inferred relationship Some 6
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) Structure of epiphysis false Inferred relationship Some 6
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) congénital false Inferred relationship Some 1
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) congénital false Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) congénital false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) modification de la croissance false Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) Structure of epiphysis false Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 3
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) localisation d'une constatation (attribut) Structure of integumentary system (body structure) false Inferred relationship Some 1
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 4
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 4

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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