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Microcephaly (CUI C0025958) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0025958

NCI Thesaurus Code: C85874  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.

GARD Definition: Microcephaly is a neurological condition in which a person's head is significantly smaller than normal for their age and sex, based on standardized charts. This condition, which most often occurs because the brain fails to grow at a normal rate, can be present at birth or it may develop in the first few years of life.  Conditions that affect brain growth and can cause microcephaly include infections, genetic disorders, severe malnutrition and other environmental factors. Some children with microcephaly will be of normal intelligence and development. However, many children with microcephaly experience complications such as developmental delays, difficulties with balance and coordination, short stature, hyperactivity, mental retardation, seizures or other neurological abnormalities.  While there's no treatment for microcephaly, early intervention may help enhance development and improve quality of life. - this information is from GARD/ORDR/NCATS.

HPO Definition: Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [pmid:19125436, pmid:9683597]

CSP Definition: abnormal smallness of the brain.

MSH Definition: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Synonyms & Abbreviations: (see Synonym Details)
Decreased circumference of cranium
micrencephala
micrencephaly
Microcephalic
Microcephalies
Microcephalus (disorder)
Microcephalus
Microcephaly [Disease/Finding]
microcephaly
microencephaly
Nanocephaly
Reduced head circumference
small calvarium
small cranium
Small head circumference
Small head
Small skull

External Source Codes: 
NCI Thesaurus Code C85874 (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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID P21.. SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DID 0723-5649 CSP
DID 0725-7823 CSP
DX 19660101 MSH
EFFECTIVE_TIME 20160131 SNOMEDCT_US
EXCLUDES1 Meckel-Gruber syndrome (Q61.9) ICD10CM
HAS_GARD_PAGE true GARD
HPO_COMMENT Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. HPO
IAN DEFAULT ICD10
ICE Hydromicrocephaly; Micrencephaly ICD9CM
INCLUSION_TERM Hydromicrocephaly ICD10
INCLUSION_TERM Micrencephalon ICD10
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) NDFRT
MESH_DUI D008831 NDFRT
MESH_NAME Microcephaly NDFRT
MESH_UI M0013769 NDFRT
MMR 20140613 MSH
MN C05.660.207.620 MSH
MN C10.500.507.400.500 MSH
MN C16.131.621.207.620 MSH
MN C16.131.666.507.400.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Microcephaly NCI
NUI N0000002010 NDFRT
ORDER_NO 27268 ICD10CM
PRIMARY_PATH 10027534$10028382$10028396$10010331$Microcephaly$Musculoskeletal and connective tissue disorders of skull congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_PATH 10068320$10052634$10029299$10010331$Microencephaly$Cerebral disorders congenital$Neurological 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 20.0 MDR
PT_IN_VERSION 20.1 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/3603/microcephaly/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7038/microencephaly/resources/1 GARD
REF HPO:orcid.org/0000-0001-5889-4463 HPO
RXAUI 3198743 RXNORM
RXAUI 3198744 RXNORM
RXCUI 1023264 RXNORM
SID HP:0001366 HPO
SID HP:0005485 HPO
SID HP:0005489 HPO
SID HP:0005497 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 11.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 1829003 NDFRT
SNOMED_CID 204030002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q02 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~Q02 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q02 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 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~Q02 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~P21.. 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 T026432 MSH
TH NLM (1966) 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=C0025958

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