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719211006: Sparse hair with short stature and skin anomaly syndrome (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
    3315429012 Sparse hair with short stature and skin anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315430019 Sparse hair with short stature and skin anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315431015 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3315429012 Sparse hair with short stature and skin anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3315429012 Sparse hair with short stature and skin anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315430019 Sparse hair with short stature and skin anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3315430019 Sparse hair with short stature and skin anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315431015 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Sparse hair with short stature and skin anomaly syndrome Is a Ectodermal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Sparse hair with short stature and skin anomaly syndrome Is a Congenital anomaly of hair false Inferred relationship Existential restriction modifier (core metadata concept)
    Sparse hair with short stature and skin anomaly syndrome Is a Short stature disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Sparse hair with short stature and skin anomaly syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Sparse hair with short stature and skin anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Sparse hair with short stature and skin anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Sparse hair with short stature and skin anomaly syndrome Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Sparse hair with short stature and skin anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Sparse hair with short stature and skin anomaly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sparse hair with short stature and skin anomaly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Sparse hair with short stature and skin anomaly syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sparse hair with short stature and skin anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sparse hair with short stature and skin anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sparse hair with short stature and skin anomaly syndrome Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sparse hair with short stature and skin anomaly syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sparse hair with short stature and skin anomaly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sparse hair with short stature and skin anomaly syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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