402774006: genetische afwijking van haarschacht (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)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (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)
\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)

\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)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (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)

\Disease\Genetic disease\Genetic defect of hair shaft (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)
\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)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic defect of hair shaft (disorder)	Is a	Disorder of hair	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Is a	Congenital anomaly of hair	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Is a	Disorder of hair shaft	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	true	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Associated morphology	defect	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Is a	Skin lesion	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Is a	Soft tissue defect (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Genetic abnormality of hair shaft	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Trichothiodystrophy (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Congenital wooly hair (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1770698014	Genetic defect of hair shaft (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781868019	Genetic defect of hair shaft	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662700013	Genetic abnormality of hair shaft	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8211231000146114	genetische afwijking van haarschacht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8211241000146118	genetische afwijking van haarschacht (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8211251000146115	genetisch defect van scapus pili	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)