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24559001: Mutilating keratoderma (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
41186015 Mutilating keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754208012 Mutilating keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1223673015 Vohwinkel's mutilating keratoderma en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4589802013 Keratoderma hereditarium mutilans en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589803015 Mutilating keratoderma of Vohwinkel en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4589804014 Vohwinkel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4469331000241118 kératodermie mutilante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381631001000114 Keratoderma hereditarium mutilans de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mutilating keratoderma Is a Congenital keratoderma false Inferred relationship Some
Mutilating keratoderma Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Mutilating keratoderma Occurrence Congenital false Inferred relationship Some
Mutilating keratoderma Associated morphology Hyperkeratosis true Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Mutilating keratoderma Associated morphology anomalie congénitale false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 1
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 2
Mutilating keratoderma Occurrence Congenital false Inferred relationship Some 3
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 3
Mutilating keratoderma Associated morphology anomalie du développement false Inferred relationship Some 3
Mutilating keratoderma Occurrence Congenital false Inferred relationship Some 4
Mutilating keratoderma Associated morphology Hyperkeratosis false Inferred relationship Some 4
Mutilating keratoderma Finding site Skin structure false Inferred relationship Some 4
Mutilating keratoderma Has interpretation Abnormal true Inferred relationship Some 1
Mutilating keratoderma Interprets Keratinization true Inferred relationship Some 1
Mutilating keratoderma Associated morphology Hyperkeratosis true Inferred relationship Some 3
Mutilating keratoderma Finding site Skin structure of palmar area of hand true Inferred relationship Some 2
Mutilating keratoderma Finding site Skin structure of sole of foot true Inferred relationship Some 3
Mutilating keratoderma Is a Rough skin of hands true Inferred relationship Some
Mutilating keratoderma Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Mutilating keratoderma Is a Erythrokeratoderma true Inferred relationship Some
Mutilating keratoderma Is a Auditory system hereditary disorder true Inferred relationship Some
Mutilating keratoderma Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Mutilating keratoderma Interprets Hearing true Inferred relationship Some 4
Mutilating keratoderma Has interpretation Impaired true Inferred relationship Some 4
Mutilating keratoderma Occurrence Congenital true Inferred relationship Some 5
Mutilating keratoderma Finding site Structure of auditory system (body structure) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant mutilating keratoderma Is a False Mutilating keratoderma Inferred relationship Some
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by 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. Is a False Mutilating keratoderma Inferred relationship Some
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. Is a True Mutilating keratoderma Inferred relationship Some

This concept is not in any reference sets

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