239059004: Keratitis ichthyosis and deafness syndrome (disorder)

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

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

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

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

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\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 (disorder)\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 (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Keratitis ichthyosis and deafness syndrome
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome

\Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\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 keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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 (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\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 (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\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 keratinisation\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 (disorder)\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 keratinisation\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 integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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 (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease (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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Keratitis ichthyosis and deafness syndrome
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Keratitis ichthyosis and deafness syndrome
\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\Keratitis ichthyosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Some
Keratitis ichthyosis and deafness syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Keratitis ichthyosis and deafness syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Keratitis ichthyosis and deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Interprets	Keratinization	true	Inferred relationship	Some	2
Keratitis ichthyosis and deafness syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Keratitis ichthyosis and deafness syndrome	Finding site	Entire skin	false	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
Keratitis ichthyosis and deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Keratitis ichthyosis and deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Keratitis ichthyosis and deafness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	5
Keratitis ichthyosis and deafness syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	5
Keratitis ichthyosis and deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	Finding site	Entire skin	true	Inferred relationship	Some	3
Keratitis ichthyosis and deafness syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Keratitis ichthyosis and deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Keratitis ichthyosis and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Senter syndrome	Is a	True	Keratitis ichthyosis and deafness syndrome	Inferred relationship	Some
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Is a	True	Keratitis ichthyosis and deafness syndrome	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
358254015	Keratitis ichthyosis and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
358255019	KIDS - Keratitis ichthyosis and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
628024010	Keratitis ichthyosis and deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223177018	Keratitis ichthyosis deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223178011	Kid syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1876701000052114	syndrom med keratit, iktyos och dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)