Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes

disorder

SNOMED 237610008CUI C0342280

Overview

Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes 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.

Abnormal nasal morphology

Very frequent (80-99%)HP:0005105

Abnormal tooth enamel

Very frequent (80-99%)HP:0000682

Abnormality of pelvic girdle bone morphology

Very frequent (80-99%)HP:0002644

Abnormality of the tragus

Very frequent (80-99%)HP:0009912

Abnormality of the ureter

Very frequent (80-99%)HP:0000069

Absent/underdeveloped breasts

Very frequent (80-99%)HP:0010311

Atrophy of fat

Very frequent (80-99%)HP:0100578

Brachydactyly

Very frequent (80-99%)HP:0001156

Cachexia

Very frequent (80-99%)HP:0004326

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased body height

Very frequent (80-99%)HP:0004322

Enlarged liver

Very frequent (80-99%)HP:0002240

Flat philtrum

Very frequent (80-99%)HP:0000319

Hypertrophy of craniofacial bones

Very frequent (80-99%)HP:0004493

Increased size of mandible

Very frequent (80-99%)HP:0000303

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Large spleen

Very frequent (80-99%)HP:0001744

Mongoloid slant

Very frequent (80-99%)HP:0000582

Myelodysplasia with sideroblastosis

Very frequent (80-99%)HP:0004828

Narrow mouth

Very frequent (80-99%)HP:0000160

NIDDM

Very frequent (80-99%)HP:0005978

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Premature tooth eruption

Very frequent (80-99%)HP:0006288

Sparse body hair

Very frequent (80-99%)HP:0002231

Sparse to absent eyebrows

Very frequent (80-99%)HP:0100840

Type I diabetes mellitus

Very frequent (80-99%)HP:0100651

Ear anomaly

HP:0000598

Ectodermal dysplasia

HP:0000968

Generalised hypotrichosis

HP:0004528

Related Conditions

Disorder of endocrine pancreas(parent)

Lipodystrophy(parent)

Quick Facts

SNOMED CT: 237610008
UMLS CUI: C0342280
Fully Specified Name: Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.