766812005: Trichodysplasia xeroderma syndrome (disorder)

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

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

\Finding of moistness of skin\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)

\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)

\General finding of soft tissue\Skin finding\Finding of moistness of skin\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (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\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Finding of moistness of skin\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome (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\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (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\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Trichodysplasia xeroderma syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichodysplasia xeroderma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3662697014 Trichodysplasia xeroderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662698016 Trichodysplasia xeroderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662699012 An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichodysplasia xeroderma syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Is a	Xeroderma	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	3
Trichodysplasia xeroderma syndrome (disorder)	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Interprets	Moistness of skin	true	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Trichodysplasia xeroderma syndrome (disorder)	Is a	Genetic defect of hair shaft (disorder)	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Is a	Keratosis	false	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3662697014	Trichodysplasia xeroderma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662698016	Trichodysplasia xeroderma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662699012	An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core