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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
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
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 Only initial character case insensitive (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 Only initial character 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
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 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
3412111001000110 Selbstheilendes Kollodium-Baby de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412111001000110 Selbstheilendes Kollodium-Baby de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Self-healing collodion baby Is a Lamellar ichthyosis true Inferred relationship Existential restriction modifier (core metadata concept)
Self-healing collodion baby Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Self-healing collodion baby Occurrence Infancy false Inferred relationship Existential restriction modifier (core metadata concept)
Self-healing collodion baby Occurrence Fetal or neonatal period false Inferred relationship Existential restriction modifier (core metadata concept)
Self-healing collodion baby Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Self-healing collodion baby Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Self-healing collodion baby Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Self-healing collodion baby Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 5
Self-healing collodion baby Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Self-healing collodion baby Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-healing collodion baby Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-healing collodion baby Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-healing collodion baby Associated morphology Proliferative hyperkeratosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-healing collodion baby Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Self-healing collodion baby Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Self-healing collodion baby Finding site Entire skin true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Acral self-healing collodion baby Is a True Self-healing collodion baby Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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