402774006: Genetic defect of hair shaft (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding (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 (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\General finding of soft tissue\Skin finding (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 (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding (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	kongenit anomali	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	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure	true	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Associated morphology	kongenit anomali	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	dysgenese	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	dysgenese	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft 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	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	Defekt	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 (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
Genetisk abnormitet i hårskaft	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by 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.	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Congenital woolly hair	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Lamelløs iktyose OG invagineret trikoreksi-syndrom	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Netherton syndrome	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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
1738291000005119	Genetisk defekt i hårskaft	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)