FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

717228004: Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308744016 Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3308745015 Hereditary palmoplantar keratoderma Gamborg Nielsen type en Synonym Active Initial character case insensitive SNOMED CT core
3308746019 The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology Hyperkeratosis true Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology Hyperkeratosis true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Skin structure of sole of foot false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Skin structure of palmar area of hand false Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Entire skin of palmar area of hand true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Entire skin of sole of foot true Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a Hereditary disorder of the integument false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Has definitional manifestation Abnormal keratinisation false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Skin structure false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type Finding site Skin structure false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology Developmental abnormality false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type Occurrence Congenital false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology Hyperkeratosis false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type Has interpretation Abnormal false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type Interprets Keratinisation false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start