SNOMED CT

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

Ohdo syndrome, Maat-Kievit-Brunner type
Synonyms

Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type
ID

http://purl.bioontology.org/ontology/SNOMEDCT/699297004
Active

1
altLabel

Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type

X-linked Ohdo syndrome

Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type

Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)
CASE SIGNIFICANCE ID

900000000000020002

900000000000017005
CTV3ID

XUmbZ
cui

C3698541
DEFINITION STATUS ID

900000000000074008
Effective time

20140131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/6081001

http://purl.bioontology.org/ontology/SNOMEDCT/25659002
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/595000

http://purl.bioontology.org/ontology/SNOMEDCT/80243003
Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/260379002
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
INACTIVATION INDICATOR

900000000000483008
interprets

http://purl.bioontology.org/ontology/SNOMEDCT/406208005

http://purl.bioontology.org/ontology/SNOMEDCT/247573007
notation

699297004
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Ohdo syndrome, Maat-Kievit-Brunner type
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

447562003~MAPADVICE~ALWAYS Q87.0

6011000124106~MAPADVICE~ALWAYS Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPTARGET~Q87.8

447562003~MAPGROUP~1

6011000124106~MAPTARGET~Q87.89

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

900000000000490003~VALUEID~900000000000483008

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

447562003~MAPADVICE~ALWAYS Q87.8

6011000124106~MAPRULE~TRUE

447562003~MAPTARGET~Q87.0

900000000000509007~ACCEPTABILITYID~900000000000549004

900000000000497000~MAPTARGET~XUmbZ
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/363070008

http://purl.bioontology.org/ontology/SNOMEDCT/363343008

http://purl.bioontology.org/ontology/SNOMEDCT/128430005

http://purl.bioontology.org/ontology/SNOMEDCT/788584007
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display