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718633009: Acral self-healing collodion baby (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3313013014 Acral self-healing collodion baby en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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