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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital hypopigmentation Is a Congenital pigmentation false Inferred relationship Some
    Congenital hypopigmentation Is a Hypopigmentation false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism-lentigines-deafness syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    albinoïdisme Associated morphology False Congenital hypopigmentation 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 Congenital hypopigmentation Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Rufous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Yellow mutant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Aland eye disease and ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Congenital deficiency of pigment of skin Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Hypopigmentation-immunodeficiency disease Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    Congenital oculocutaneous hypopigmentation Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Partial albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Woolf's syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Ocular albinism, type I Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Congenital hypopigmentation of choroid Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Chédiak-Higashi syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Brown oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Cross syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Phylloid hypomelanosis (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Aland eye disease and ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Partial albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism, type I Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Cross syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    Albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Rufous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Congenital hypopigmentation 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 Congenital hypopigmentation Inferred relationship Some 1
    Chédiak-Higashi syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Brown oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Hypopigmentation-immunodeficiency disease Associated morphology False Congenital hypopigmentation Inferred relationship Some
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Woolf's syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some
    albinoïdisme Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Yellow mutant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Phylloid hypomelanosis (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism-lentigines-deafness syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Congenital oculocutaneous hypopigmentation Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism-lentigines-deafness syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Hermansky-Pudlak syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism, type I Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    albinoïdisme Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Brown oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Rufous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Yellow mutant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Congenital hypopigmentation of choroid Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Punctate oculocutaneous albinoidism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Autosomal recessive ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Aland eye disease and ocular albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Congenital deficiency of pigment of skin Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    albinoïdisme Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Brown oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Rufous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Partial albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Yellow mutant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Hermansky-Pudlak syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Woolf's syndrome Associated morphology False Congenital hypopigmentation Inferred relationship Some 1
    Albinotic fundus Associated morphology False Congenital hypopigmentation Inferred relationship Some 3
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Congenital deficiency of pigment of skin Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Congenital hypopigmentation Inferred relationship Some 2
    Cross syndrome Associated morphology False Congenital hypopigmentation 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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