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 woolly hair\Autosomal recessive familial woolly hair

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

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair

\Disease\Genetic disease\Congenital woolly hair\Autosomal recessive familial woolly hair
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive familial woolly hair
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial woolly hair
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly hair
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly 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 woolly hair\Autosomal recessive familial woolly hair
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive familial woolly hair
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair

Status: current, Defined. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771721010 Autosomal recessive familial woolly hair (disorder) en Fully specified name Inactive Case insensitive SNOMED CT core
1782805017 Autosomal recessive familial woolly hair en Synonym Active Case insensitive SNOMED CT core
3779275016 Autosomal recessive familial wooly hair en Synonym Active Case insensitive SNOMED CT core
3779276015 Autosomal recessive familial wooly hair (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	True	Autosomal recessive familial woolly hair	Inferred relationship	Some
Naxos disease	Is a	True	Autosomal recessive familial woolly hair	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Is a	True	Autosomal recessive familial woolly hair	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771721010	Autosomal recessive familial woolly hair (disorder)	en	Fully specified name	Inactive	Case insensitive	SNOMED CT core
1782805017	Autosomal recessive familial woolly hair	en	Synonym	Active	Case insensitive	SNOMED CT core
3779275016	Autosomal recessive familial wooly hair	en	Synonym	Active	Case insensitive	SNOMED CT core
3779276015	Autosomal recessive familial wooly hair (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core