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 woolly hair\Autosomal recessive familial woolly hair

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

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\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\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\Autosomal recessive familial 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\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\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\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)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital woolly hair\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 woolly hair\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 woolly hair\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 woolly hair\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 woolly hair\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 woolly hair\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 woolly hair\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:

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	anomalie congénitale	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	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Associated morphology	anomalie congénitale	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	anomalie du développement	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
Autosomal recessive familial woolly hair	Associated morphology	Morphologically abnormal structure	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
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 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	True	Autosomal recessive familial 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	True	Autosomal recessive familial woolly hair	Inferred relationship	Some

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
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