402774006: Genetic defect of hair shaft (disorder)

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	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Is a	Congenital anomaly of hair	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Is a	Disorder of hair shaft	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic defect of hair shaft (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic defect of hair shaft (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Genetic defect of hair shaft (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Genetic defect of hair shaft (disorder)	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Genetic defect of hair shaft (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Associated morphology	Defect	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic defect of hair shaft (disorder)	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder)	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
PIBIDS syndrome, photosensitivity with IBIDS	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic abnormality of hair shaft	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichothiodystrophy (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital wooly hair (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
érythrokératodermie, trichorrhexie noueuse et dermatite atopique	Is a	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Netherton syndrome (disorder)	Is a	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
1770698014	Genetic defect of hair shaft (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
6284251000241113	défaut génétique des tiges pilaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6284261000241111	défaut génétique de la tige des cheveux et/ou des poils	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6284251000241113	défaut génétique des tiges pilaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6284261000241111	défaut génétique de la tige des cheveux et/ou des poils	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module