Cell death inducing DFFA like effector C-related familial partial lipodystrophy

disorder

SNOMED 1197749008CUI C3808940

Overview

Cell death inducing DFFA like effector C-related familial partial 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.

Diabetic ketoacidosis

Always present (100%)HP:0001953

High blood pressure

Always present (100%)HP:0000822

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

Increased C-peptide level

Always present (100%)HP:0030796

Loss of subcutaneous adipose tissue from extremities

Always present (100%)HP:0003635

Menstrual irregularity

Always present (100%)HP:0000858

Acanthosis nigricans

Very frequent (80-99%)HP:0000956

Decreased adiponectin level

Very frequent (80-99%)HP:0030685

Decreased serum leptin

Very frequent (80-99%)HP:0003292

Enlarged liver

Very frequent (80-99%)HP:0002240

Fatty liver

Very frequent (80-99%)HP:0001397

Hypertrophic muscles

Very frequent (80-99%)HP:0003712

Increased size of calf muscles

Very frequent (80-99%)HP:0008981

Increased triglycerides

Very frequent (80-99%)HP:0002155

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Light or infrequent menstrual periods

Very frequent (80-99%)HP:0000876

Loss of fat tissue below the skin in gluts

Very frequent (80-99%)HP:0009017

Pancreatitis

Very frequent (80-99%)HP:0001733

Polycystic ovary disease

Very frequent (80-99%)HP:0000147

Related Conditions

Connective tissue hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of the integument(parent)

Familial lipodystrophy of limbs AND/OR trunk(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197749008
UMLS CUI: C3808940
Fully Specified Name: Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.