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Congenital infiltrating lipomatosis of face
disorderSNOMED 1251402007CUI C5680341
Overview
Congenital infiltrating lipomatosis of face 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.
Unbalanced face
Always present (100%)HP:0000324
Abnormal subcutaneous fat tissue distribution
Frequent (30-79%)HP:0007552
Hyperplasia of parotid gland
Frequent (30-79%)HP:0011801
Hyperplasia of zygomatic bone
Frequent (30-79%)HP:0012370
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Maxillary macrognathia
Frequent (30-79%)HP:0430028
Premature tooth eruption
Frequent (30-79%)HP:0006288
Puffy cheeks
Frequent (30-79%)HP:0000293
tonsils large/hypertrophy
Frequent (30-79%)HP:0030812
Abnormal social interactions
Occasional (5-29%)HP:0012433
Agenesis of permanent teeth
Occasional (5-29%)HP:0006349
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Hemimegalencephaly
Occasional (5-29%)HP:0007206
Increased width of tooth
Occasional (5-29%)HP:0001572
Multiple mucosal neuromas
Occasional (5-29%)HP:0031023
Nevocellular nevi
Occasional (5-29%)HP:0000995
Rigidity of the temporomandibular joint
Occasional (5-29%)HP:0012478
Sleep apnea
Occasional (5-29%)HP:0010535
Trouble sleeping
Occasional (5-29%)HP:0002360
Quick Facts
- SNOMED CT
- 1251402007
- UMLS CUI
- C5680341
- Fully Specified Name
- Congenital infiltrating lipomatosis of face (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.