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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
5401497017 A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401498010 A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterised by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308613015 Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character case insensitive (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
5401497017 A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401498010 A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterised by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423661001000116 Keratoderma hereditarium mutilans mit Ichthyose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6406751000241113 kératodermie mutilante héréditaire avec ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6406761000241111 kératodermie mutilante héréditaire avec syndrome d'ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6406751000241113 kératodermie mutilante héréditaire avec ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6406761000241111 kératodermie mutilante héréditaire avec syndrome d'ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423661001000116 Keratoderma hereditarium mutilans mit Ichthyose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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