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Bone dysplasia lethal Holmgren type

disorder
SNOMED 732249002CUI C1859407

Overview

Bone dysplasia lethal Holmgren type 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 skeletal development
Very frequent (80-99%)HP:0002652
Abnormality of the thighbone
Very frequent (80-99%)HP:0002823
Low chest circumference
Very frequent (80-99%)HP:0000774
Micromelia
Very frequent (80-99%)HP:0002983
Respiratory function loss
Very frequent (80-99%)HP:0002093
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Severe short-limb dwarfism
Very frequent (80-99%)HP:0008890
Short ribs
Very frequent (80-99%)HP:0000773
Weight loss
Very frequent (80-99%)HP:0001824
Abnormal shape of shaft of long bone
Frequent (30-79%)HP:0000940
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the elbow
Frequent (30-79%)HP:0009811
Abnormality of the thumbs
Frequent (30-79%)HP:0001172
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Bell-shaped chest
Frequent (30-79%)HP:0001591
Flat facial shape
Frequent (30-79%)HP:0012368
Frontal protuberance
Frequent (30-79%)HP:0002007
Hearing abnormality
Frequent (30-79%)HP:0000364
High forehead
Frequent (30-79%)HP:0000348
Joint dislocation
Frequent (30-79%)HP:0001373
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Metaphyseal dysplasia
Frequent (30-79%)HP:0100255
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nostrils anteverted
Frequent (30-79%)HP:0000463
Retruded nasal dorsum
Frequent (30-79%)HP:0000457
Short neck
Frequent (30-79%)HP:0000470
Abnormal hands
Occasional (5-29%)HP:0001155
Atria septal defect
Occasional (5-29%)HP:0001631
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Decreased haemoglobin
Occasional (5-29%)HP:0001903

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Chondrodysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Rhizomelic dysplasia(parent)

Quick Facts

SNOMED CT
732249002
UMLS CUI
C1859407
Fully Specified Name
Bone dysplasia lethal Holmgren type (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
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.