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Ayazi syndrome (CUI C1844836) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1844836

Semantic Type: Disease or Syndrome

SNOMEDCT_US Definition: An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.

SNOMEDCT_US Definition: An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state.

Synonyms & Abbreviations: (see Synonym Details)
Ayazi syndrome
Choroideraemia with deafness and obesity syndrome
Choroideremia - deafness - obesity
Choroideremia deafness obesity
Choroideremia with deafness and obesity syndrome (disorder)
Choroideremia with deafness and obesity syndrome
Choroideremia with Deafness and Obesity
Choroideremia, obesity, and congenital deafness

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUuBq SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 30701 GARD
DISEASE_IDENTIFIER_ID 3091 GARD
DISEASE_IDENTIFIER_ID 3092 GARD
EFFECTIVE_TIME 20170131 SNOMEDCT_US
FR 0 MSH
HAS_GARD_PAGE true GARD
HM D003638/Q000151 MSH
HM D009765 MSH
HM D015794 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-03-26T00:00:00 GARD
MDA 20100825 MSH
MMR 20131106 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/369/ayazi-syndrome/resources/1 GARD
RN 0 MSH
SC 3 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E66.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H31.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H91.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E66.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H31.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H91.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E66.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H31.21 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H91.90 | CONSIDER LATERALITY SPECIFICATION SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E66.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H31.21 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H91.90 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUuBq 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 T743765 MSH
TERMUI T743766 MSH
TERMUI T743767 MSH
TERMUI T829607 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=C1844836

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