Microcephalic primordial dwarfism, insulin resistance syndrome

disorder

SNOMED 1220596009CUI C5681181

Overview

Microcephalic primordial dwarfism, insulin resistance syndrome 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.

Fatty liver

Very frequent (80-99%)HP:0001397

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased triglycerides

Very frequent (80-99%)HP:0002155

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Malar hyperplasia

Very frequent (80-99%)HP:0010620

Primary gonadal insufficiency

Very frequent (80-99%)HP:0008193

Severe short-limb dwarfism

Very frequent (80-99%)HP:0008890

Congenital blindness

Occasional (5-29%)HP:0007875

Retinal detachment

Occasional (5-29%)HP:0000541

Related Conditions

Congenital microcephalus(parent)

Primordial dwarfism(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hypogonadism(parent)

Insulin resistance(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1220596009
UMLS CUI: C5681181
Fully Specified Name: Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.