766812005: Trichodysplasia xeroderma syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Finding of moistness of skin\Xeroderma\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Xeroderma\Trichodysplasia xeroderma syndrome

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

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

\Disease\Genetic disease\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichodysplasia xeroderma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Trichodysplasia xeroderma syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Trichodysplasia xeroderma syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trichodysplasia xeroderma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichodysplasia xeroderma syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3662698016 Trichodysplasia xeroderma syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662697014	Trichodysplasia xeroderma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662698016	Trichodysplasia xeroderma syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core