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764108000: syndroom van wollig haar met palmoplantaire hyperkeratose (aandoening)


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
6273731000146119 wollig haar-palmoplantaire keratodermie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6273761000146111 KWWH type IV nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6273811000146117 keratoderma met 'woolly hair' type IV nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6888751000146119 syndroom van wollig haar met palmoplantaire hyperkeratose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6888761000146116 syndroom van wollig haar met palmoplantaire hyperkeratose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Wooly hair with palmoplantar keratoderma syndrome Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Is a Congenital wooly hair (disorder) false Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Is a Hereditary disorder of the integument false Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Has interpretation Abnormal false Inferred relationship Some 3
Wooly hair with palmoplantar keratoderma syndrome Interprets Keratinization false Inferred relationship Some 3
Wooly hair with palmoplantar keratoderma syndrome Finding site Hair shaft structure (body structure) true Inferred relationship Some 2
Wooly hair with palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Some 2
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure true Inferred relationship Some 1
Wooly hair with palmoplantar keratoderma syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 1
Wooly hair with palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Some 1
Wooly hair with palmoplantar keratoderma syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Wooly hair with palmoplantar keratoderma syndrome Is a Congenital anomaly of skin false Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 3
Wooly hair with palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 4
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 3
Wooly hair with palmoplantar keratoderma syndrome Finding site Skin structure of palmar area of hand true Inferred relationship Some 4
Wooly hair with palmoplantar keratoderma syndrome Is a Autosomal recessive familial woolly hair true Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Is a Congenital palmoplantar keratoderma (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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