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722202006: Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331135019 Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331136018 Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331137010 This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14490781000172119 syndrome de kératodermie palmoplantaire, ambiguïté sexuelle 46,XX et prédisposition au carcinome épidermoïde fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
14490791000172116 syndrome d'hyperkératose palmoplantaire, ambiguïté sexuelle 46,XX et prédisposition au carcinome spinocellulaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4378821000172112 syndroom van palmoplantaire hyperkeratose, XX-geslachtsomkering en predispositie voor plaveiselcelcarcinoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4378831000172110 palmoplantaire keratodermie-XX-geslachtsomkering-predispositie voor plaveiselcelcarcinoom-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Gonadal dysgenesis true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Gonadal structure false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Interprets Keratinization false Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Gonadal structure true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Developmental hereditary 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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