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


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3331136018 Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


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 Occurrence Congenital true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence Congenital true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Finding site Skin structure true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Congenital anomaly of skin true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Finding site Gonadal structure true Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 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 Finding site Skin structure of sole of foot false Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 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 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 Is a Developmental hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Gonadal dysgenesis true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Hereditary disorder of the integument false Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a Hereditary neoplastic syndrome true Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Has definitional manifestation Abnormal keratinisation false Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence Congenital false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence Congenital false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Finding site Skin structure false Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence Congenital false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Finding site Gonadal structure false Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Finding site Skin structure false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology Hyperkeratosis false Inferred relationship Some 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Has interpretation Abnormal false Inferred relationship Some 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Interprets Keratinisation false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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