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83386001: Congenital hypopigmentation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    138307014 Congenital hypopigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    825008010 Congenital hypopigmentation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2838231000005117 Kongenit hypopigmentering da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Kongenit hypopigmentering Is a kongenit pigmentering false Inferred relationship Some
    Kongenit hypopigmentering Is a Hypopigmentation false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Minimal pigment oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulær albinisme-lentigines-døvhedssyndrom Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Rufous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Autosomal dominant okulokutan albinisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Yellow mutant oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Aland eye disease and ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Congenital deficiency of pigment of skin Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Hypopigmentation-immunodeficiency disease Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Congenital oculocutaneous hypopigmentation Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Partial albinism (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Woolf's syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Ocular albinism, type I Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Congenital hypopigmentation of choroid Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Chédiak-Higashi syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Brown oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulokutan albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Cross syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Phylloid hypomelanosis (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Aland eye disease and ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Partial albinism (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Minimal pigment oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ocular albinism, type I Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Cross syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Rufous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulokutan albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Chédiak-Higashi syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Autosomal dominant okulokutan albinisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Brown oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Hypopigmentation-immunodeficiency disease Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Woolf's syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some
    Albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Yellow mutant oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Phylloid hypomelanosis (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulær albinisme-lentigines-døvhedssyndrom Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Congenital oculocutaneous hypopigmentation Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulær albinisme-lentigines-døvhedssyndrom Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Hermansky-Pudlak syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ocular albinism, type I Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Brown oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Autosomal dominant okulokutan albinisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Minimal pigment oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Rufous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Yellow mutant oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Okulokutan albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Congenital hypopigmentation of choroid Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Aland eye disease and ocular albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Congenital deficiency of pigment of skin Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinoidisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Brown oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Rufous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Partial albinism (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Minimal pigment oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Yellow mutant oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Woolf's syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 1
    Albinotic fundus Associated morphology False Kongenit hypopigmentering Inferred relationship Some 3
    Autosomal dominant okulokutan albinisme Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Congenital deficiency of pigment of skin Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Temperature-sensitive oculocutaneous albinism Associated morphology False Kongenit hypopigmentering Inferred relationship Some 2
    Cross syndrome Associated morphology False Kongenit hypopigmentering Inferred relationship Some 6

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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