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Mandibuloacral dysostosis co-occurrent with type A lipodystrophy
disorderSNOMED 1003431005CUI C5399785
Overview
Mandibuloacral dysostosis co-occurrent with type A lipodystrophy 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.
Acanthosis nigricans
Always present (100%)HP:0000956
Calcinosis
Always present (100%)HP:0003761
Camptodactyly
Always present (100%)HP:0012385
Delayed closure of the fontanelles
Always present (100%)HP:0000270
Dental crowding
Always present (100%)HP:0000678
Dystrophic thickened nails
Always present (100%)HP:0001805
Elevated total cholesterol
Always present (100%)HP:0003124
Enlarged liver
Always present (100%)HP:0002240
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Glucose tolerance decreased
Always present (100%)HP:0040270
Growth failure
Always present (100%)HP:0001510
Hooked nose
Always present (100%)HP:0000444
Hypoplastic mandible condyle
Always present (100%)HP:0000347
Inability to make and keep healthy fat tissue
Always present (100%)HP:0009125
Osteopenia
Always present (100%)HP:0000938
Poikiloderma
Always present (100%)HP:0001029
Puffy cheeks
Always present (100%)HP:0000293
Reduced subcutaneous adipose tissue
Always present (100%)HP:0003758
Sloping shoulders
Always present (100%)HP:0200021
Stiff joint
Always present (100%)HP:0001387
Valgus hip
Always present (100%)HP:0002673
Absent/small collarbone
Very frequent (80-99%)HP:0006710
Acro-osteolysis of distal phalanges
Very frequent (80-99%)HP:0009839
Acroosteolysis of distal phalanges (feet)
Very frequent (80-99%)HP:0001870
Breakdown of bone
Very frequent (80-99%)HP:0002797
Decreased body height
Very frequent (80-99%)HP:0004322
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Extra bones within cranial sutures
Very frequent (80-99%)HP:0002645
Hair loss
Very frequent (80-99%)HP:0001596
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Related Conditions
Quick Facts
- SNOMED CT
- 1003431005
- UMLS CUI
- C5399785
- Fully Specified Name
- Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (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.