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718632004: Self-healing collodion baby (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3313009019 Self-healing collodion baby (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3313011011 Self-healing collodion baby en Synonym Active Case insensitive SNOMED CT core
3313012016 A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Self-healing collodion baby Occurrence Congenital true Inferred relationship Some 1
Self-healing collodion baby Pathological process Pathological developmental process true Inferred relationship Some 1
Self-healing collodion baby Finding site Skin structure false Inferred relationship Some 1
Self-healing collodion baby Associated morphology Proliferative hyperkeratosis true Inferred relationship Some 1
Self-healing collodion baby Has interpretation Abnormal true Inferred relationship Some 2
Self-healing collodion baby Interprets Keratinisation true Inferred relationship Some 2
Self-healing collodion baby Finding site Entire skin true Inferred relationship Some 1
Self-healing collodion baby Is a Lamellar ichthyosis true Inferred relationship Some
Self-healing collodion baby Is a Autosomal recessive ichthyosis true Inferred relationship Some
Self-healing collodion baby Occurrence Infancy false Inferred relationship Some
Self-healing collodion baby Occurrence Fetal or neonatal period false Inferred relationship Some
Self-healing collodion baby Associated morphology Developmental abnormality false Inferred relationship Some 4
Self-healing collodion baby Occurrence Congenital false Inferred relationship Some 4
Self-healing collodion baby Finding site Skin structure false Inferred relationship Some 4
Self-healing collodion baby Associated morphology Hyperkeratosis false Inferred relationship Some 5
Self-healing collodion baby Finding site Skin structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group
Acral self-healing collodion baby Is a True Self-healing collodion baby Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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