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718633009: bébé collodion à guérison spontanée, forme acrale (trouble)


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
3313010012 Acral self-healing collodion baby (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313013014 Acral self-healing collodion baby en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752441000241116 bébé collodion à guérison spontanée, forme acrale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
901891000172112 bébé collodion à guérison spontanée, forme acrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
911661000172118 SHCB (self-healing collodion baby) acral fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3313014015 A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acral self-healing collodion baby (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Acral self-healing collodion baby (disorder) morphologie associée (attribut) Proliferative hyperkeratosis true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Acral self-healing collodion baby (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 2
Acral self-healing collodion baby (disorder) localisation d'une constatation (attribut) Entire skin true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) est un(e) (attribut) Self-healing collodion baby (disorder) true Inferred relationship Some
Acral self-healing collodion baby (disorder) survenue (attribut) Infancy (qualifier value) false Inferred relationship Some
Acral self-healing collodion baby (disorder) survenue (attribut) Fetal or neonatal period false Inferred relationship Some
Acral self-healing collodion baby (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 5
Acral self-healing collodion baby (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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