723551003: Trichothiodystrophy (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\Trichothiodystrophy
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\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\Trichothiodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy

\Disease\Genetic disease\Genetic defect of hair shaft\Trichothiodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy
\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\Trichothiodystrophy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\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\Trichothiodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy
\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\Trichothiodystrophy
\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\Trichothiodystrophy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\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\Trichothiodystrophy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425068010 Trichothiodystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3425069019 Trichothiodystrophy en Synonym Active Case insensitive SNOMED CT core

3425070018 A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. en Definition Active Case sensitive SNOMED CT core

3425071019 A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichothiodystrophy	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Trichothiodystrophy	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trichothiodystrophy	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Trichothiodystrophy	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
Trichothiodystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Trichothiodystrophy	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
Trichothiodystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Trichothiodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichothiodystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Trichothiodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Trichothiodystrophy	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Trichothiodystrophy	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Trichothiodystrophy	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Trichothiodystrophy	Associated morphology	Defect	true	Inferred relationship	Some	2
Trichothiodystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trichothiodystrophy	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Trichothiodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Trichothiodystrophy	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Trichothiodystrophy	Is a	Genetic defect of hair shaft	true	Inferred relationship	Some
Trichothiodystrophy	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Trichothiodystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Trichothiodystrophy	Occurrence	Congenital	false	Inferred relationship	Some	4
Trichothiodystrophy	Occurrence	Congenital	false	Inferred relationship	Some	5
Trichothiodystrophy	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Trichothiodystrophy	Finding site	Hair shaft structure	false	Inferred relationship	Some	5
Trichothiodystrophy	Finding site	Skin structure	false	Inferred relationship	Some	3
Trichothiodystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Trichothiodystrophy	Finding site	Ectoderm structure	false	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Trichothiodystrophy	Inferred relationship	Some
Sabinas brittle hair syndrome	Is a	True	Trichothiodystrophy	Inferred relationship	Some
Clastothrix	Is a	True	Trichothiodystrophy	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Is a	True	Trichothiodystrophy	Inferred relationship	Some
BIDS syndrome	Is a	True	Trichothiodystrophy	Inferred relationship	Some

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
3425068010	Trichothiodystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425069019	Trichothiodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3425070018	A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core
3425071019	A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core