67510007: Ichthyosis hystrix (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Ichthyosis hystrix

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix

\General finding of soft tissue\Skin finding\Rough skin (finding)\Ichthyosis hystrix
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Ichthyosis hystrix

\Disorder of keratinisation\Ichthyosis hystrix

\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Ichthyosis hystrix
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Integumentary system finding\Skin finding\Rough skin (finding)\Ichthyosis hystrix
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Ichthyosis hystrix
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Ichthyosis hystrix

\Disease\Genetic disease\Ichthyosis hystrix
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Ichthyosis hystrix
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Disease\Keratosis\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Ichthyosis hystrix
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ichthyosis hystrix

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

110415015 Ichthyosis hystrix en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

807242017 Ichthyosis hystrix (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4610991000241110 ichtyose hystrix fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis hystrix	Is a	Congenital ichthyosis of skin	false	Inferred relationship	Some
Ichthyosis hystrix	Is a	Disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
Ichthyosis hystrix	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Ichthyosis hystrix	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Ichthyosis hystrix	Occurrence	Congenital	false	Inferred relationship	Some
Ichthyosis hystrix	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Ichthyosis hystrix	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Ichthyosis hystrix	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis hystrix	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Ichthyosis hystrix	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis hystrix	Occurrence	Congenital	false	Inferred relationship	Some	2
Ichthyosis hystrix	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Ichthyosis hystrix	Finding site	Skin structure	false	Inferred relationship	Some	2
Ichthyosis hystrix	Occurrence	Congenital	true	Inferred relationship	Some	1
Ichthyosis hystrix	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ichthyosis hystrix	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Ichthyosis hystrix	Is a	Autosomal dominant ichthyosis (disorder)	false	Inferred relationship	Some
Ichthyosis hystrix	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Ichthyosis hystrix	Interprets	Keratinization	true	Inferred relationship	Some	2
Ichthyosis hystrix	Finding site	Entire skin	true	Inferred relationship	Some	1
Ichthyosis hystrix	Is a	Genodermatosis	true	Inferred relationship	Some
Ichthyosis hystrix	Is a	Disorder of keratinisation	true	Inferred relationship	Some
Ichthyosis hystrix	Is a	Ichthyosis	true	Inferred relationship	Some
Ichthyosis hystrix	Is a	Genetic disease	true	Inferred relationship	Some
Ichthyosis hystrix	Is a	Rough skin (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Is a	True	Ichthyosis hystrix	Inferred relationship	Some
Ichthyosis hystrix Bäfverstedt type (disorder)	Is a	True	Ichthyosis hystrix	Inferred relationship	Some
Ichthyosis hystrix gravior of Rheydt	Is a	False	Ichthyosis hystrix	Inferred relationship	Some
Hystrix ichthyosis with deafness	Is a	False	Ichthyosis hystrix	Inferred relationship	Some
Porcupine man	Is a	False	Ichthyosis hystrix	Inferred relationship	Some
Ichthyosis hystrix gravior (disorder)	Is a	True	Ichthyosis hystrix	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
110415015	Ichthyosis hystrix	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807242017	Ichthyosis hystrix (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4610991000241110	ichtyose hystrix	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module