Human dermatosparaxis EDS VIIC (Ehlers-Danlos syndrome type 7C)

disorder

SNOMED 1237225007CUI C2700425

Overview

Human dermatosparaxis EDS VIIC (Ehlers-Danlos syndrome type 7C) 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.

Bleeding gums

Always present (100%)HP:0000225

Bruising susceptibility

Always present (100%)HP:0000978

Dermal translucency

Always present (100%)HP:0010648

Fragile skin

Always present (100%)HP:0001030

Grey sclerae

Always present (100%)HP:0000592

Growth delay as children

Always present (100%)HP:0008897

Hyperkeratosis, gingival

Always present (100%)HP:0000222

Late closure of soft spot on the skull

Always present (100%)HP:0001476

Short limbs

Always present (100%)HP:0009826

Soft, doughy skin

Always present (100%)HP:0001027

Umbilical hernia

Always present (100%)HP:0001537

Wider-than-typical soft spot of skull

Always present (100%)HP:0000260

Abnormality of fatty tissue below the skin

Very frequent (80-99%)HP:0001001

Coxa valga deformity

Very frequent (80-99%)HP:0002673

Coxa vara

Very frequent (80-99%)HP:0002812

Developmental dysplasia of the hip

Very frequent (80-99%)HP:0001385

Difficulty finding words

Very frequent (80-99%)HP:0002381

Dislocated femoral heads

Very frequent (80-99%)HP:0002827

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Echologia

Very frequent (80-99%)HP:0010529

Esophagitis

Very frequent (80-99%)HP:0100633

Excessive wrinkled skin

Very frequent (80-99%)HP:0007392

Gastroesophageal reflux disease

Very frequent (80-99%)HP:0002020

Hernia

Very frequent (80-99%)HP:0100790

Increased bleeding time

Very frequent (80-99%)HP:0003010

Joint disease

Very frequent (80-99%)HP:0001367

Joint dislocation

Very frequent (80-99%)HP:0001373

Loose-jointedness

Very frequent (80-99%)HP:0001382

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Mutism

Very frequent (80-99%)HP:0002300

Related Conditions

Ehlers-Danlos syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1237225007
UMLS CUI: C2700425
Fully Specified Name: Dermatosparaxis Ehlers-Danlos syndrome (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.