239059004: Keratitis ichthyosis and deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Keratitis ichthyosis and deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keratitis ichthyosis and deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keratitis ichthyosis and deafness syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Keratitis ichthyosis and deafness syndrome

\Functional finding\Decline in functional status\Decreased hearing\Keratitis ichthyosis and deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keratitis ichthyosis and deafness syndrome
\Functional finding\Hearing finding\Decreased hearing\Keratitis ichthyosis and deafness syndrome
\Functional finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Functional finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome

\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\Keratitis ichthyosis and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Keratitis ichthyosis and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\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\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keratitis ichthyosis and deafness syndrome
\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\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

358254015 Keratitis ichthyosis and deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

358255019 KIDS - Keratitis ichthyosis and deafness syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

628024010 Keratitis ichthyosis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1223177018 Keratitis ichthyosis deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5144589011 KID syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5144590019 Keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5144593017 Ichthyosis hystrix Rheydt type en Synonym Active Only initial character case insensitive SNOMED CT core module

5144594011 KID/HID syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratitis ichthyosis and deafness syndrome	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Keratitis ichthyosis and deafness syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Keratitis ichthyosis and deafness syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Keratitis ichthyosis and deafness syndrome	Finding site	Entire skin	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Finding site	Structure of auditory system	false	Inferred relationship	Existential restriction modifier	4
Keratitis ichthyosis and deafness syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	4
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Keratitis ichthyosis and deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Keratitis ichthyosis and deafness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	5
Keratitis ichthyosis and deafness syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	5
Keratitis ichthyosis and deafness syndrome	Interprets	Hearing, function	false	Inferred relationship	Existential restriction modifier	1
Keratitis ichthyosis and deafness syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	3
Keratitis ichthyosis and deafness syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	3
Keratitis ichthyosis and deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Keratitis ichthyosis and deafness syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Keratitis ichthyosis and deafness syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Keratitis ichthyosis and deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Senter syndrome	Is a	True	Keratitis ichthyosis and deafness syndrome	Inferred relationship	Existential restriction modifier
Autosomal recessive keratitis-ichthyosis-deafness syndrome	Is a	True	Keratitis ichthyosis and deafness syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358254015	Keratitis ichthyosis and deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
358255019	KIDS - Keratitis ichthyosis and deafness syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
628024010	Keratitis ichthyosis and deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1223177018	Keratitis ichthyosis deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5144589011	KID syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5144590019	Keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5144593017	Ichthyosis hystrix Rheydt type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5144594011	KID/HID syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module