254231002: Congenital 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 woolly hair

\Congenital anomaly of hair\Congenital woolly hair

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital woolly hair
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital 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 woolly hair
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital 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 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 woolly hair
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital 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 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 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 woolly hair

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital 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 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 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 woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital woolly hair
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital 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 woolly hair
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Congenital woolly hair
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital 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 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 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 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 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 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 woolly hair
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital woolly hair	Is a	Congenital morphological disturbances of hair	false	Inferred relationship	Some
Congenital woolly hair	Is a	cheveux laineux	false	Inferred relationship	Some
Congenital woolly hair	Occurrence	Congenital	false	Inferred relationship	Some
Congenital woolly hair	Finding site	Hair structure	false	Inferred relationship	Some
Congenital woolly hair	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital woolly hair	Finding site	Hair structure (body structure)	false	Inferred relationship	Some
Congenital woolly hair	Finding site	Skin structure	false	Inferred relationship	Some
Congenital woolly hair	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
Congenital woolly hair	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital woolly hair	Finding site	Hair shaft structure	true	Inferred relationship	Some	1
Congenital woolly hair	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital woolly hair	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital woolly hair	Finding site	Hair shaft structure	false	Inferred relationship	Some	2
Congenital woolly hair	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital woolly hair	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital woolly hair	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital woolly hair	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Congenital woolly hair	Is a	Genetic disease	false	Inferred relationship	Some
Congenital woolly hair	Is a	Disorder of hair shaft	false	Inferred relationship	Some
Congenital woolly hair	Is a	Genetic defect of hair shaft (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant familial woolly hair	Is a	True	Congenital woolly hair	Inferred relationship	Some
Autosomal recessive familial woolly hair	Is a	True	Congenital woolly hair	Inferred relationship	Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Is a	False	Congenital woolly hair	Inferred relationship	Some
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	False	Congenital woolly hair	Inferred relationship	Some
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	Is a	False	Congenital woolly hair	Inferred relationship	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.	Is a	True	Congenital woolly hair	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378460016	Congenital woolly hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779271013	Congenital wooly hair (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779272018	Congenital wooly hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082981000241110	cheveux laineux congénitaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441171001000117	Wollhaare	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module