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717183001: syndroom van keratoderma hereditarium mutilans met ichtyose (aandoening)


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
6362181000146111 Vohwinkel-syndroom met ichthyosis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6362191000146113 syndroom van Vohwinkel met ichtyose nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6362201000146110 ziekte van Camisa nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947081000146111 syndroom van keratoderma hereditarium mutilans met ichtyose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947091000146113 syndroom van keratodermie, ichtyosiforme dermatose en verhoogd bètaglucuronidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947101000146118 syndroom van keratoderma hereditarium mutilans met ichtyose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 autosomaal dominante keratoderma hereditarium mutilans 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 gebrekkige ontwikkeling (afwijkende morfologie) 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
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Is a Congenital palmoplantar keratoderma (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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