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721837000: Hypertrichosis and acromegaloid facial appearance syndrome (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3326201015 Hypertrichosis acromegaloid facial features syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3326202010 Hypertrichosis coarse face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3326205012 Hypertrichosis and acromegaloid facial appearance syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3326206013 Hypertrichosis and acromegaloid facial appearance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3326203017 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3326204011 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalised increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3886651000052115 syndrom med hypertrikos och ansiktsutseende av akromegaloid typ sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Is a Congenital hypertrichosis false Inferred relationship Some
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Is a Hereditary disorder of the integument false Inferred relationship Some
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Finding site Skin structure false Inferred relationship Some
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence Congenital false Inferred relationship Some 3
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence Congenital false Inferred relationship Some 4
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Finding site Hair structure (body structure) false Inferred relationship Some 3
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Finding site Face structure false Inferred relationship Some 4
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence Congenital false Inferred relationship Some 1
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence Congenital false Inferred relationship Some 2
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Finding site Hair structure (body structure) false Inferred relationship Some 1
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Finding site Face structure false Inferred relationship Some 2
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology Growth alteration false Inferred relationship Some 3
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Associated morphology Growth alteration false Inferred relationship Some 1
    syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Is a Developmental hereditary disorder false Inferred relationship Some

    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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