239057002: Cutaneous syndrome with ichthyosis (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis

\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\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 (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis

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

358252016 Cutaneous syndrome with ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

628022014 Cutaneous syndrome with ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2019681000005117 Kutant syndrom med iktyose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutaneous syndrome with ichthyosis	Is a	Genodermatosis (disorder)	false	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Occurrence	Congenital	false	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Finding site	Structure of skin region	false	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Interprets	Keratinization	true	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Atypical ichthyosis vulgaris with hypogonadism	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Netherton syndrome	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type	Is a	False	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
HSMN IV	Is a	False	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Is a	True	Cutaneous syndrome with ichthyosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358252016	Cutaneous syndrome with ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628022014	Cutaneous syndrome with ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2019681000005117	Kutant syndrom med iktyose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)