FFDD type 4 - focal facial dermal dysplasia type 4

disorder

SNOMED 789161001CUI C3554246

Overview

FFDD type 4 - focal facial dermal dysplasia type 4 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 buccal mucosa morphology

Very frequent (80-99%)HP:3000019

Abnormality of the cheek

Very frequent (80-99%)HP:0004426

Blister

Very frequent (80-99%)HP:0008066

Abnormality of epidermal morphology

Frequent (30-79%)HP:0011124

Abnormality of mastocytes

Frequent (30-79%)HP:0100494

Cleft of palate

Frequent (30-79%)HP:0000175

Cleft of upper lip

Frequent (30-79%)HP:0000204

Decreased size of cranium

Frequent (30-79%)HP:0000252

Focal seizures

Frequent (30-79%)HP:0007359

Fragmented elastic fibers in the dermis

Frequent (30-79%)HP:0025167

Hemangiomata

Frequent (30-79%)HP:0001028

Hemiparesis

Frequent (30-79%)HP:0001269

Intracranial haemorrhage

Frequent (30-79%)HP:0002170

Naevus

Frequent (30-79%)HP:0003764

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Scarring

Frequent (30-79%)HP:0100699

Small chin

Frequent (30-79%)HP:0000331

Focal facial dermal dysplasia

HP:0011336

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Focal facial dermal dysplasia(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 789161001
UMLS CUI: C3554246
Fully Specified Name: Focal facial dermal dysplasia type IV (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.