67510007: Ichthyosis hystrix (disorder)

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

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

\Rough skin (finding)\Ichthyosis hystrix (disorder)

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Ichthyosis hystrix (disorder)

\Disorder of keratinisation\Ichthyosis hystrix (disorder)

\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Ichthyosis hystrix (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Ichthyosis hystrix (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Ichthyosis hystrix (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Ichthyosis hystrix (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Ichthyosis hystrix (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Ichthyosis hystrix (disorder)

\Disease\Genetic disease\Ichthyosis hystrix (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Ichthyosis hystrix (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Ichthyosis hystrix (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Disease\Keratosis (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Ichthyosis hystrix (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Ichthyosis hystrix (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ichthyosis hystrix (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis hystrix (disorder)	Is a	Congenital ichthyosis of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	Disorder of skin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis hystrix (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis hystrix (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis hystrix (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Is a	Autosomal dominant ichthyosis (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis hystrix (disorder)	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis hystrix (disorder)	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis hystrix (disorder)	Is a	Genodermatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	Disorder of keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	Ichthyosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	Rough skin (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix Bäfverstedt type (disorder)	Is a	True	Ichthyosis hystrix (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix gravior of Rheydt	Is a	False	Ichthyosis hystrix (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hystrix ichthyosis with deafness	Is a	False	Ichthyosis hystrix (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Porcupine man	Is a	False	Ichthyosis hystrix (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix gravior	Is a	True	Ichthyosis hystrix (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
110415015	Ichthyosis hystrix	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
4610991000241110	ichtyose hystrix	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module