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Rett Syndrome (CUI C0035372) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0035372

NCI Thesaurus Code: C75488  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.

RADLEX Definition: An inherited neurological developmental disorder that is associated with X-linked inheritance and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ataxia; seizures; autistic behavior; intermittent hyperventilation; and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) [MeSH]

GARD Definition: Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include

  • Loss of speech
  • Loss of hand movements such as grasping
  • Compulsive movements such as hand wringing
  • Balance problems
  • Breathing problems
  • Behavior problems
  • Learning problems or intellectual disability

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

NIH: National Institute of Child Health and Human Development

PDQ Definition: A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. Check for active clinical trials using this agent. (NCI Thesaurus)

CSP Definition: progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.

MSH Definition: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Synonyms & Abbreviations: (see Synonym Details)
Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism, dementia, ataxia, and loss of purposeful hand use
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic hyperammonaemia
Cerebroatrophic Hyperammonemias
cerebroatrophic hyperammonemia
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
Rett Disorder
RETT DIS
Rett Syndrome [Disease/Finding]
Rett syndrome
Rett's disorder (disorder)
Rett's disorder
Rett's syndrome
Rett-Syndrom
RETTS DIS
Retts Syndrome
RTS - Rett syndrome
RTS
RTT
Syndrome, Rett's
Syndrome, Rett

External Source Codes: 
NCI Thesaurus Code C75488 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID X005S SNOMEDCT_US
DATE_CREATED 01/17/2006 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_FIRST_PUBLISHED 2015-06-19 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2015-06-19 PDQ
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 4001-0114 CSP
DISEASE_IDENTIFIER_ID 16871 GARD
DX 19900101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 Asperger's syndrome (F84.5) ICD10CM
EXCLUDES1 Autistic disorder (F84.0) ICD10CM
EXCLUDES1 Other childhood disintegrative disorder (F84.3) ICD10CM
FX D008607 MSH
GENELOCUS ,X,q,2,8, OMIM
GENESYMBOL AUTSX3 OMIM
GENESYMBOL MECP2 OMIM
GENESYMBOL MRX16 OMIM
GENESYMBOL MRX79 OMIM
GENESYMBOL MRXS13 OMIM
GENESYMBOL MRXSL OMIM
GENESYMBOL PPMX OMIM
GENESYMBOL RTT OMIM
HAS_GARD_PAGE true GARD
HN 90 MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-10-14T00:00:00 GARD
MDA 19890407 MSH
MESH_DEFINITION An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) NDFRT
MESH_DUI D015518 NDFRT
MESH_NAME Rett Syndrome NDFRT
MESH_UI M0023877 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150522 MSH
MN C10.597.606.643.455.937 MSH
MN C16.320.322.500.937 MSH
MN C16.320.400.525.937 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/rettsyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/rettsyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NCI_THESAURUS_CODE C75488 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Rett Syndrome NCI
NUI N0000003280 NDFRT
ORDER_NO 05705 ICD10CM
ORIG_STY Disease/diagnosis PDQ
PM 90 MSH
PRIMARY_PATH 10077709$10021602$10027424$10010331$Rett syndrome$Inborn errors of amino acid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5696/rett-syndrome/resources/1 GARD
RXAUI 3112529 RXNORM
RXAUI 3131824 RXNORM
RXAUI 3232067 RXNORM
RXAUI 3232068 RXNORM
RXAUI 3232069 RXNORM
RXAUI 3232070 RXNORM
RXAUI 3232071 RXNORM
RXAUI 4222137 RXNORM
RXCUI 1023437 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 19.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 19.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 68618008 NDFRT
SNOMEDID D9-18120 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS F84.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~F84.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS F84.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~F84.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X005S SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D9-18120 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T046005 MSH
TERMUI T046006 MSH
TERMUI T372086 MSH
TERMUI T372087 MSH
TERMUI T372088 MSH
TERMUI T372089 MSH
TERMUI T782107 MSH
TH GHR (2014) MSH
TH NLM (1990) MSH
TH NLM (2000) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0035372

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