Familial partial lipodystrophy Kobberling type

disorder

SNOMED 725035001CUI C1720859

Overview

Familial partial lipodystrophy Kobberling type 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.

Atrophy of fat

Very frequent (80-99%)HP:0100578

Body fails to respond to insulin

Very frequent (80-99%)HP:0000855

Diabetes mellitus

Very frequent (80-99%)HP:0000819

High blood pressure

Very frequent (80-99%)HP:0000822

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Enlarged liver

Frequent (30-79%)HP:0002240

Fatty liver

Frequent (30-79%)HP:0001397

Polycystic ovary disease

Frequent (30-79%)HP:0000147

Xanthomatosis

Frequent (30-79%)HP:0000991

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Pancreatitis

Occasional (5-29%)HP:0001733

Plaque build-up in arteries supplying blood to heart

Occasional (5-29%)HP:0001677

Acute pancreatitis

HP:0001735

Facial fat hypertrophy

HP:0000287

Hyperglycemia

HP:0003074

Inability to make and keep healthy fat tissue

HP:0009125

Increased fat around the neck

HP:0000468

Increased subcutaneous truncal adipose tissue

HP:0009003

Increased triglycerides

HP:0002155

Insulin-resistant diabetes

HP:0000831

Loss of fat tissue below the skin in gluts

HP:0009017

Loss of subcutaneous adipose tissue from extremities

HP:0003635

Muscular abnormality

HP:0003011

Prominent veins

HP:0001015

Related Conditions

Autosomal dominant hereditary disorder(parent)

Familial lipodystrophy of limbs AND/OR trunk(parent)

Connective tissue hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Quick Facts

SNOMED CT: 725035001
UMLS CUI: C1720859
Fully Specified Name: Familial partial lipodystrophy Kobberling type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.