764108000: Wooly hair with palmoplantar keratoderma syndrome (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\Woolly hair with palmoplantar keratoderma syndrome

\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome

\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome

\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome

\Disease\Genetic disease\Congenital woolly hair\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive familial woolly hair\Woolly hair with palmoplantar keratoderma syndrome
\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\Woolly hair with palmoplantar keratoderma syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3646096011 Wooly hair with palmoplantar keratoderma syndrome en Synonym Active Case insensitive SNOMED CT core

3646097019 Woolly hair with palmoplantar keratoderma syndrome en Synonym Active Case insensitive SNOMED CT core

3646098012 Wooly hair with palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3646099016 Keratoderma with woolly hair type IV en Synonym Active Initial character case insensitive SNOMED CT core

3784487019 Keratoderma with wooly hair type IV en Synonym Active Initial character case insensitive SNOMED CT core

3646107010 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 the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13. en Definition Active Case sensitive SNOMED CT core

3646108017 A very rare hereditary epidermal disorder characterised by hypotrichosis/woolly 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 the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13 en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Woolly hair with palmoplantar keratoderma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Woolly hair with palmoplantar keratoderma syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Woolly hair with palmoplantar keratoderma syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Woolly hair with palmoplantar keratoderma syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Woolly hair with palmoplantar keratoderma syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	4
Woolly hair with palmoplantar keratoderma syndrome	Finding site	Skin structure of sole of foot	true	Inferred relationship	Some	3
Woolly hair with palmoplantar keratoderma syndrome	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	4
Woolly hair with palmoplantar keratoderma syndrome	Is a	Autosomal recessive familial woolly hair	true	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Is a	Congenital woolly hair	false	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Woolly hair with palmoplantar keratoderma syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Woolly hair with palmoplantar keratoderma syndrome	Interprets	Keratinisation	false	Inferred relationship	Some	3
Woolly hair with palmoplantar keratoderma syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Woolly hair with palmoplantar keratoderma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Woolly hair with palmoplantar keratoderma syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Woolly hair with palmoplantar keratoderma syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Woolly hair with palmoplantar keratoderma syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Woolly hair with palmoplantar keratoderma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3646096011	Wooly hair with palmoplantar keratoderma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3646097019	Woolly hair with palmoplantar keratoderma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3646098012	Wooly hair with palmoplantar keratoderma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3646099016	Keratoderma with woolly hair type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3784487019	Keratoderma with wooly hair type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3646107010	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 the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13.	en	Definition	Active	Case sensitive	SNOMED CT core
3646108017	A very rare hereditary epidermal disorder characterised by hypotrichosis/woolly 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 the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13	en	Definition	Active	Case sensitive	SNOMED CT core