403795009: autosomaal recessief hereditair 'woolly hair' (aandoening)

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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\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 involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (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 involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive familial woolly hair
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive familial woolly hair	Is a	Congenital wooly hair (disorder)	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	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Finding site	Hair structure (body structure)	false	Inferred relationship	Some
Autosomal recessive familial woolly hair	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Finding site	Hair shaft structure (body 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	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Pathological process (attribute)	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

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
Wooly hair with palmoplantar keratoderma syndrome	Is a	True	Autosomal recessive familial woolly hair	Inferred relationship	Some

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779275016	Autosomal recessive familial wooly hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779276015	Autosomal recessive familial wooly hair (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8198571000146116	autosomaal recessief erfelijk 'woolly hair'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8198591000146117	autosomaal recessief familiair wollig haar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8728001000146117	autosomaal recessief hereditair wollig haar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8773761000146114	autosomaal recessief hereditair 'woolly hair' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8773771000146115	autosomaal recessief hereditair 'woolly hair'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)