Diaphragmatic defect, limb deficiency, skull defect syndrome

disorder

SNOMED 721095007CUI C4303589

Overview

Diaphragmatic defect, limb deficiency, skull defect 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.

Abnormal scapula morphology

Very frequent (80-99%)HP:0000782

Abnormality of the arm

Very frequent (80-99%)HP:0002817

Abnormality of the lower limb

Very frequent (80-99%)HP:0002814

Abnormality of the thighbone

Very frequent (80-99%)HP:0002823

Absent/underdeveloped radius

Very frequent (80-99%)HP:0006501

Aplasia/hypoplasia of the humerus

Very frequent (80-99%)HP:0006507

Curvature of little finger

Very frequent (80-99%)HP:0004209

Diaphragmatic hernia

Very frequent (80-99%)HP:0000776

Hypoplasia or unilateral/bilateral absence of ulna

Very frequent (80-99%)HP:0006495

Hypoplastic/aplastic fibulae

Very frequent (80-99%)HP:0006492

Omphalocoele

Very frequent (80-99%)HP:0001539

Partial syndactyly

Very frequent (80-99%)HP:0006101

Poorly developed lungs

Very frequent (80-99%)HP:0002089

Poorly ossified skull

Very frequent (80-99%)HP:0004331

Unequal size of arms

Very frequent (80-99%)HP:0100560

Abnormal morphology of female internal genitalia

Occasional (5-29%)HP:0000008

Related Conditions

Congenital hypoplasia of lung(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital posterolateral diaphragmatic hernia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721095007
UMLS CUI: C4303589
Fully Specified Name: Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.