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. [ url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm url:https://medlineplus.gov/ency/article/001536.htm http://purl.obolibrary.org/obo/ECO_0007637 url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm ]
Term information
- SNOMEDCT_US_2021_09_01:192583003
- GARD:5696
- ICD10CM:F84.2
- UMLS_CUI:C0035372
- OMIM:312750
- MESH:D015518
- NCI:C75488
- OMIM:613454
DO_rare_slim, NCIthesaurus
- OMIM mapping confirmed by DO. [SN].
- 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.
- cerebroatrophic hyperammonemia
- Rett's disorder
- disease_ontology
- DOID:1206