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56588001: Congenital hyperpigmentation (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
    94104017 Congenital hyperpigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    795116010 Congenital hyperpigmentation (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 hyperpigmentation Is a Congenital pigmentation false Inferred relationship Some
    Congenital hyperpigmentation Is a Hyperpigmentation false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital melanosis of sclera Associated morphology False Congenital hyperpigmentation Inferred relationship Some 2
    Congenital melanosis Associated morphology False Congenital hyperpigmentation Inferred relationship Some 2
    A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Associated morphology False Congenital hyperpigmentation Inferred relationship Some 3
    A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Associated morphology False Congenital hyperpigmentation Inferred relationship Some 5
    Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Associated morphology False Congenital hyperpigmentation Inferred relationship Some 2

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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