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718632004: Self-healing collodion baby (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
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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5401801017 Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401802012 Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterised by the presence of a collodion membrane at birth that heals within the first weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313009019 Self-healing collodion baby (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313011011 Self-healing collodion baby en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Is a Lamellar ichthyosis true Inferred relationship Some
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Occurrence Infancy false Inferred relationship Some
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Occurrence Fetal or neonatal period false Inferred relationship Some
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Associated morphology dysgenese false Inferred relationship Some 4
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Occurrence Congenital false Inferred relationship Some 4
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Finding site Skin structure false Inferred relationship Some 4
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Associated morphology Hyperkeratosis false Inferred relationship Some 5
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Finding site Skin structure false Inferred relationship Some 5
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Occurrence Congenital true Inferred relationship Some 1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Finding site Skin structure false Inferred relationship Some 1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Associated morphology Proliferative hyperkeratosis true Inferred relationship Some 1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Has interpretation Abnormal true Inferred relationship Some 2
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Interprets Keratinization true Inferred relationship Some 2
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Finding site Entire skin true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. Is a True Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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