403795009: Autosomal recessive familial wooly hair (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair

\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair

\Disease\Genetic disease\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial wooly hair
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive familial wooly hair
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial wooly hair
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial wooly hair
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\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\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive familial wooly hair
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair\Autosomal recessive familial wooly hair

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1782805017 Autosomal recessive familial woolly hair en Synonym Active Entire term case insensitive SNOMED CT core module

3779275016 Autosomal recessive familial wooly hair en Synonym Active Entire term case insensitive SNOMED CT core module

3779276015 Autosomal recessive familial wooly hair (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive familial wooly hair	Is a	Congenital wooly hair	true	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive familial wooly hair	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive familial wooly hair	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive familial wooly hair	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive familial wooly hair	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier
Wooly hair with palmoplantar keratoderma syndrome	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1782805017	Autosomal recessive familial woolly hair	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3779275016	Autosomal recessive familial wooly hair	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3779276015	Autosomal recessive familial wooly hair (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module