403796005: trichothiodystrofie type D-syndroom (aandoening)

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

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

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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)\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature 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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\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\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	Genetic defect of hair shaft (disorder)	false	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	Brittle hair	false	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Skin structure	false	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Structure of hair of skin region (body structure)	false	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	Trichothiodystrophy (disorder)	true	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Finding site	Hair shaft structure (body structure)	true	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	defect	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1782806016	BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1787873015	BIDS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2914034018	Brittle hair-impaired intellect-decreased fertility-short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914654016	Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425072014	Amish brittle hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6193701000146115	TTD type D	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252681000146118	BIDS-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645191000146119	trichothiodystrofie type D-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645201000146117	trichothiodystrofie type D-syndroom (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)