FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5402847010 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by 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. The etiology is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402848017 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by 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. The aetiology is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402847010 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by 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. The etiology is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402848017 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by 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. The aetiology is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3392751001000116 Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445621000241114 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) SNOMED CT Switzerland NRC maintained Module
6445631000241111 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) SNOMED CT Switzerland NRC maintained Module
6445621000241114 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) SNOMED CT Switzerland NRC maintained Module
6445631000241111 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) SNOMED CT Switzerland NRC maintained Module
3392751001000116 Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-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
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Gonadal dysgenesis true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Finding site Gonadal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a Developmental hereditary disorder 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)

Back to Start