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1156849001: Autosomal recessive epidermolysis bullosa simplex (disorder)


Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576324010 Autosomal recessive epidermolysis bullosa simplex en Synonym Active Case insensitive SNOMED CT core
4576325011 Autosomal recessive epidermolysis bullosa simplex (disorder) en Fully specified name Active Case insensitive SNOMED CT core


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive epidermolysis bullosa simplex Pathological process Pathological developmental process true Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Is a Epidermolysis bullosa simplex true Inferred relationship Some
Autosomal recessive epidermolysis bullosa simplex Associated morphology Epidermolysis true Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Finding site Skin structure true Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Epidermolysis bullosa simplex due to BP230 deficiency Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
KRT14 related epidermolysis bullosa simplex Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Lethal acantholytic erosive disorder Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some
Lethal autosomal recessive epidermolysis bullosa simplex Is a True Autosomal recessive epidermolysis bullosa simplex Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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