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763775000: syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante (trouble)


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
766541000241110 syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
902241000172110 syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
946331000172117 syndrome KLICK (kératose linéaire, ichtyose congénitale, kératodermie sclérosante) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 4
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) est un(e) (attribut) Erythrokeratodermia variabilis false Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 4
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) Entire skin true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) est un(e) (attribut) Rough skin of hands true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 4
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) est un(e) (attribut) Mutilating keratoderma false Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) est un(e) (attribut) Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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