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763775000: Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643799015 KLICK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643800016 Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643801017 Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643802012 An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. 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
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Is a Mutilating keratoderma false Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Interprets Keratinization true Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 4
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Is a Erythrokeratodermia variabilis false Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 4
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Entire skin true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Is a Rough skin of hands true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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