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717183001: Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308613015 Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308614014 Keratoderma hereditarium mutilans with ichthyosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308615010 Camisa disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308616011 Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308617019 Vohwinkel ichthyosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308618012 A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14059781000172112 kératodermie mutilante héréditaire avec ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14059791000172110 kératodermie mutilante héréditaire avec syndrome d'ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4585901000172114 ziekte van Camisa nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4585911000172112 syndroom van keratodermie, ichtyosiforme dermatose en verhoogd bètaglucuronidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4585921000172119 Vohwinkel-syndroom met ichthyosis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4585931000172116 syndroom van keratoderma hereditarium mutilans met ichtyose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4585941000172111 syndroom van Vohwinkel met ichtyose nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Congenital ichthyosis of skin false Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Autosomal dominant mutilating keratoderma false Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Interprets Keratinization true Inferred relationship Some 2
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Autosomal dominant ichthyosis (disorder) true Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Erythrokeratodermia variabilis false Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Entire skin true Inferred relationship Some 1
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Interprets Keratinization false Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Interprets Keratinization false Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 5
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Some 5
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 6
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 6
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Mutilating keratoderma true Inferred relationship Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Interprets Hearing true Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Congenital keratoderma true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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