402774006: Genetic defect of hair shaft (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
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft
\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
\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
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft

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

\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
\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
\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
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft

\Disease\Genetic disease\Genetic defect of hair shaft
\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
\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
\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
\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
\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
\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft
\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
\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
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft

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

Descriptions:

Id Description Lang Type Status Case? Module

1770698014 Genetic defect of hair shaft (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1781868019 Genetic defect of hair shaft en Synonym Active Entire term case insensitive SNOMED CT core module

3662700013 Genetic abnormality of hair shaft en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic defect of hair shaft	Is a	Disorder of hair	false	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Is a	Congenital anomaly of hair	true	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Is a	Disorder of hair shaft	true	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Finding site	Hair shaft structure	false	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Finding site	Hair shaft structure	true	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Genetic defect of hair shaft	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Genetic defect of hair shaft	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier	2
Genetic defect of hair shaft	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Genetic defect of hair shaft	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Genetic defect of hair shaft	Finding site	Hair shaft structure	false	Inferred relationship	Existential restriction modifier	3
Genetic defect of hair shaft	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Associated morphology	Defect	true	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Genetic defect of hair shaft	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier

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	Inferred relationship	Existential restriction modifier
Brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	False	Genetic defect of hair shaft	Inferred relationship	Existential restriction modifier
Genetic abnormality of hair shaft	Is a	False	Genetic defect of hair shaft	Inferred relationship	Existential restriction modifier
Trichothiodystrophy	Is a	True	Genetic defect of hair shaft	Inferred relationship	Existential restriction modifier
Trichodysplasia xeroderma syndrome	Is a	True	Genetic defect of hair shaft	Inferred relationship	Existential restriction modifier

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	SNOMED CT core module
1781868019	Genetic defect of hair shaft	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3662700013	Genetic abnormality of hair shaft	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module