SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Osteogenesis imperfecta, perinatal lethal
Synonyms

Lethal osteogenesis imperfecta

Osteogenesis imperfecta type II (disorder)

Osteogenesis imperfecta type II

Osteogenesis imperfecta, type II
ID

http://purl.bioontology.org/ontology/SNOMEDCT/205496008
Active

1
altLabel

Lethal osteogenesis imperfecta

Osteogenesis imperfecta type II (disorder)

Osteogenesis imperfecta type II

Osteogenesis imperfecta, type II
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009
CTV3ID

PG514
cui

C0268358
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/272673000
Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/263654008
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
interprets

http://purl.bioontology.org/ontology/SNOMEDCT/83323007
notation

205496008
Occurs in

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

Osteogenesis imperfecta, perinatal lethal
Subset member

900000000000497000~MAPTARGET~PG514

447562003~MAPRULE~TRUE

447562003~MAPTARGET~Q78.0

6011000124106~MAPADVICE~ALWAYS Q78.0

6011000124106~MAPTARGET~Q12.0

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPRULE~IFA 15552004 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL, WITH MICROCEPHALY AND CATARACTS CHOOSE Q12.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 15552004 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) |

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL, WITH MICROCEPHALY AND CATARACTS CHOOSE Q02 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447639009

447562003~MAPADVICE~ALWAYS Q78.0

6011000124106~MAPTARGET~Q78.0

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL, WITH MICROCEPHALY AND CATARACTS CHOOSE Q78.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q02

6011000124106~MAPGROUP~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL, WITH MICROCEPHALY AND CATARACTS CHOOSE Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
tui

T047

T019
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/78314001
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