403795009: Autosomal recessive familial wooly hair (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)\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Autosomal recessive familial wooly hair
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly 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 wooly hair
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly 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 wooly hair
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Autosomal recessive familial wooly hair
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Autosomal recessive familial wooly 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 (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly 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 wooly 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 (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly 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 wooly hair
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly hair
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal recessive familial wooly hair
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial wooly 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 wooly hair	Is a	Congenital wooly hair (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Finding site	Hair structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive familial wooly hair	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive familial wooly hair	Finding site	Hair shaft structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive familial wooly hair	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive familial wooly hair	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome	Is a	True	Autosomal recessive familial wooly hair	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
1771721010	Autosomal recessive familial woolly hair (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771721010	Autosomal recessive familial woolly hair (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1782805017	Autosomal recessive familial woolly hair	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
5264661000241113	cheveux laineux familial autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264661000241113	cheveux laineux familial autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module