Rett syndrome

Term ID

DOID:1206

Synonyms

• cerebroatrophic hyperammonemia
• Rett's disorder

Definition

A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (3)

References

• GARD:5696
• ICD10CM:F84.2
• MESH:D015518
• NCI:C75488
• OMIM:312750
• OMIM:613454
• SNOMEDCT_US_2023_03_01:192583003
• UMLS_CUI:C0035372

Ontology

Human Disease   ( DOID:1206 )