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Lipodystrophy, intellectual disability, deafness syndrome

disorder

SNOMED 721973006CUI C4302920

Overview

Lipodystrophy, intellectual disability, deafness 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.

Birth weight less than 10th percentile

Very frequent (80-99%)HP:0001518

Decreased body height

Very frequent (80-99%)HP:0004322

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Lead lines in metaphyses of bones

Very frequent (80-99%)HP:0100959

Lipodystrophy, generalised

Very frequent (80-99%)HP:0009064

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Osteopenia

Very frequent (80-99%)HP:0000938

Poor school performance

Very frequent (80-99%)HP:0001249

Progeroid facial appearance

Very frequent (80-99%)HP:0005328

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Slender build

Very frequent (80-99%)HP:0001533

Slender long bones with narrow diaphyses

Very frequent (80-99%)HP:0004993

Undergrowth

Very frequent (80-99%)HP:0001508

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Skeletal dysplasia(parent)

Disorder with defective osteoid mineralization(parent)

Hearing loss associated with syndrome(parent)

Berardinelli's syndrome(parent)

Connective tissue hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Genetic lipodystrophy(parent)

Congenital anomaly of subcutaneous tissue(parent)

Musculoskeletal and connective tissue disorder(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Sensorineural hearing loss(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721973006
UMLS CUI: C4302920
Fully Specified Name: Lipodystrophy, intellectual disability, deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.