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764108000: Wooly hair with palmoplantar keratoderma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646097019 Woolly hair with palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646098012 Wooly hair with palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646099016 Keratoderma with woolly hair type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3784487019 Keratoderma with wooly hair type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404282018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404283011 Woolly hair-palmoplantar keratoderma syndrome is 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 woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3646096011 Wooly hair with palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646097019 Woolly hair with palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646098012 Wooly hair with palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646099016 Keratoderma with woolly hair type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3784487019 Keratoderma with wooly hair type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404282018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404283011 Woolly hair-palmoplantar keratoderma syndrome is 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 woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453411001000115 Wollhaare-Palmoplantarkeratose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453411001000115 Wollhaare-Palmoplantarkeratose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Wooly hair with palmoplantar keratoderma syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Is a Congenital wooly hair (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Wooly hair with palmoplantar keratoderma syndrome Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Wooly hair with palmoplantar keratoderma syndrome Finding site Hair shaft structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Wooly hair with palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Wooly hair with palmoplantar keratoderma syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Wooly hair with palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Wooly hair with palmoplantar keratoderma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Wooly hair with palmoplantar keratoderma syndrome Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 4
Wooly hair with palmoplantar keratoderma syndrome Is a Autosomal recessive familial wooly hair true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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