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721837000: syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening)


    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
    6598941000146115 HAFF-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6725671000146119 syndroom van hypertrichose en acromegaloïde gelaatskenmerken nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6844351000146117 syndroom van hypertrichose en acromegaloïd aangezicht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12486731000146117 syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    12659891000146113 syndroom van hypertrichose en acromegaloïde aangezichtskenmerken nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    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


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Is a Congenital hypertrichosis false Inferred relationship Some
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Is a Hereditary disorder of the integument false Inferred relationship Some
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Finding site Skin structure false Inferred relationship Some
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Occurrence Congenital false Inferred relationship Some 3
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Occurrence Congenital false Inferred relationship Some 4
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Finding site Hair structure (body structure) false Inferred relationship Some 3
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Finding site Face structure false Inferred relationship Some 4
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Occurrence Congenital false Inferred relationship Some 1
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Occurrence Congenital false Inferred relationship Some 2
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Finding site Hair structure (body structure) false Inferred relationship Some 1
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Finding site Face structure false Inferred relationship Some 2
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology Growth alteration false Inferred relationship Some 3
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) Associated morphology Growth alteration false Inferred relationship Some 1
    syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening) 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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