Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

disorder

SNOMED 722454003CUI C1855303

Overview

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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.

Cleft ala nasi

Very frequent (80-99%)HP:0003191

Decreased serum testosterone level

Very frequent (80-99%)HP:0040171

Decreased sexual hair

Very frequent (80-99%)HP:0002225

Decreased testicular size

Very frequent (80-99%)HP:0008734

Deep set eye

Very frequent (80-99%)HP:0000490

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Elevated circulating follicle stimulating hormone level

Very frequent (80-99%)HP:0008232

Elevated circulating luteinizing hormone level

Very frequent (80-99%)HP:0011969

Eunuchoid habitus

Very frequent (80-99%)HP:0003782

Hypertrophy of mandible

Very frequent (80-99%)HP:0000303

Increased nasal width

Very frequent (80-99%)HP:0000445

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Narrow base of nose

Very frequent (80-99%)HP:0012809

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Type I diabetes mellitus

Very frequent (80-99%)HP:0100651

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Breast aplasia

Frequent (30-79%)HP:0100783

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypotonia, early

Frequent (30-79%)HP:0008947

Decreased projection of maxilla

Occasional (5-29%)HP:0000327

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

Pelvic girdle muscle wasting

Occasional (5-29%)HP:0008988

Related Conditions

Diabetes mellitus type I(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Primary hypogonadism(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722454003
UMLS CUI: C1855303
Fully Specified Name: Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.