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771473004: Papular epidermal nevi with skyline basal cell layers syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706364010 Papular epidermal naevi with skyline basal cell layers syndrome en Synonym Active Case insensitive SNOMED CT core
3706365011 PENS syndrome en Synonym Active Case sensitive SNOMED CT core
3706366012 PENS (papular epidermal nevi with skyline basal cell layers) syndrome en Synonym Active Case sensitive SNOMED CT core
3706367015 Papular epidermal nevi with skyline basal cell layers syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706368013 PENS (papular epidermal naevi with skyline basal cell layers) syndrome en Synonym Active Case sensitive SNOMED CT core
3706369017 Papular epidermal nevi with skyline basal cell layers syndrome en Synonym Active Case insensitive SNOMED CT core
4611852014 A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
PENS syndrome Occurrence Congenital true Inferred relationship Some 2
PENS syndrome Is a Neurocutaneous syndrome true Inferred relationship Some
PENS syndrome Occurrence Congenital true Inferred relationship Some 1
PENS syndrome Finding site Epidermis structure true Inferred relationship Some 2
PENS syndrome Associated morphology Melanocytic naevus - category false Inferred relationship Some 2
PENS syndrome Finding site Structure of nervous system true Inferred relationship Some 1
PENS syndrome Is a Congenital pigmented melanocytic naevus of skin true Inferred relationship Some
PENS syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
PENS syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
PENS syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
PENS syndrome Occurrence Congenital true Inferred relationship Some 3
PENS syndrome Is a Congenital anomaly of nervous system true Inferred relationship Some
PENS syndrome Finding site Structure of nervous system true Inferred relationship Some 3
PENS syndrome Associated morphology Neoplasm true Inferred relationship Some 3
PENS syndrome Associated morphology Pigmented naevus true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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