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722205008: Palmoplantar keratoderma Nagashima type (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331144018 Palmoplantar keratoderma Nagashima type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3331145017 Palmoplantar keratoderma Nagashima type en Synonym Active Initial character case insensitive SNOMED CT core
3331147013 This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

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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