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Raine dysplasia

disorder
SNOMED 389239007CUI C1850106

Overview

Raine dysplasia 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.

Periosteal reaction
Always present (100%)HP:0031485
Central cleft palate
Very frequent (80-99%)HP:0009099
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retrognathia
Very frequent (80-99%)HP:0000278
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Short neck
Very frequent (80-99%)HP:0000470
Thoracic hypoplasia
Very frequent (80-99%)HP:0005257
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Agnathia
Frequent (30-79%)HP:0009939
Idiopathic gingival hyperplasia
Frequent (30-79%)HP:0000169
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Laboured breathing
Frequent (30-79%)HP:0002098
Panting
Frequent (30-79%)HP:0002094
Poorly developed lungs
Frequent (30-79%)HP:0002089
Respiratory failure
Frequent (30-79%)HP:0002878
Arthrogryposis multiplex
Occasional (5-29%)HP:0002804
Bowed long bones
Occasional (5-29%)HP:0006487
Brachydactyly
Occasional (5-29%)HP:0001156
Defective enamel matrix
Occasional (5-29%)HP:0006297
Dysplastic ears
Occasional (5-29%)HP:0000377
Flattening of head
Occasional (5-29%)HP:0001357
Hearing loss, mixed
Occasional (5-29%)HP:0000410
Hydronephrosis
Occasional (5-29%)HP:0000126
Hypertrophy of mandible
Occasional (5-29%)HP:0000303
Large halluces
Occasional (5-29%)HP:0001847
Large mouth
Occasional (5-29%)HP:0000154
Micromelia
Occasional (5-29%)HP:0002983
Natal tooth
Occasional (5-29%)HP:0000695

Quick Facts

SNOMED CT
389239007
UMLS CUI
C1850106
Fully Specified Name
Raine dysplasia (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.