Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type

disorder

SNOMED 725407006CUI C4511044

Overview

Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal blistering of the skin

Very frequent (80-99%)HP:0008066

Abnormal serum selenium concentration

Very frequent (80-99%)HP:0031903

Atypical scarring

Very frequent (80-99%)HP:0000987

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Fragile skin

Very frequent (80-99%)HP:0001030

Low body weight

Very frequent (80-99%)HP:0004325

Very poor growth

Very frequent (80-99%)HP:0001510

Abnormal oesophagus morphology

Frequent (30-79%)HP:0002031

Chronic cutaneous wound

Frequent (30-79%)HP:0032676

Constipation

Frequent (30-79%)HP:0002019

Decreased circulating iron concentration

Frequent (30-79%)HP:0040303

Decreased plasma carnitine

Frequent (30-79%)HP:0003234

Decreased serum zinc

Frequent (30-79%)HP:0031831

Deficient in vitamin D

Frequent (30-79%)HP:0100512

Deglutition disorder

Frequent (30-79%)HP:0002015

Esophageal stricture

Frequent (30-79%)HP:0002043

Feeding difficulties

Frequent (30-79%)HP:0011968

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Irregular hyperpigmentation

Frequent (30-79%)HP:0007400

Low albumin

Frequent (30-79%)HP:0003073

Malnutrition

Frequent (30-79%)HP:0004395

Milia

Frequent (30-79%)HP:0001056

Narrowing of the esophagus

Frequent (30-79%)HP:0010450

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

Rotting teeth

Frequent (30-79%)HP:0000670

Skin erosion

Frequent (30-79%)HP:0200041

Skin infections, recurrent

Frequent (30-79%)HP:0001581

Undergrowth

Frequent (30-79%)HP:0001508

Absent toenails (anonychia)

Occasional (5-29%)HP:0001802

Anal erosion

Occasional (5-29%)HP:0012390

Related Conditions

Recessive dystrophic epidermolysis bullosa(parent)

Generalized dystrophic epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 725407006
UMLS CUI: C4511044
Fully Specified Name: Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.