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Lethal faciocardiomelic dysplasia

disorder
SNOMED 719400000CUI C1856891

Overview

Lethal faciocardiomelic dysplasia 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.

Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Decreased size of tongue
Very frequent (80-99%)HP:0000171
Dysplastic radii
Very frequent (80-99%)HP:0006433
Hypoplasia of the ulna
Very frequent (80-99%)HP:0003022
Hypoplastic left heart
Very frequent (80-99%)HP:0004383
Hypoplastic/small little finger
Very frequent (80-99%)HP:0009237
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Narrow mouth
Very frequent (80-99%)HP:0000160
Radial ray hypoplasia
Very frequent (80-99%)HP:0002984
Retromicrognathia
Very frequent (80-99%)HP:0000308
Short fibula
Very frequent (80-99%)HP:0003038
Short skankbone
Very frequent (80-99%)HP:0005736
Space between great toe and second toe
Very frequent (80-99%)HP:0001852
PDA
Frequent (30-79%)HP:0001643
Abnormality of cardiovascular system morphology
HP:0030680
Birth weight less than 10th percentile
HP:0001518
Hypoplastic mandible
HP:0000347
Radial deviation of hands
HP:0009486
Retrognathia
HP:0000278
Single flexion crease
HP:0000954
Talipes
HP:0001883
Thumb hypoplasia
HP:0009778

Quick Facts

SNOMED CT
719400000
UMLS CUI
C1856891
Fully Specified Name
Lethal faciocardiomelic dysplasia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
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.