SNOMED CT

Last uploaded: August 28, 2024
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Preferred Name

Osteogenesis imperfecta type IIC
Synonyms

Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs

Osteogenesis imperfecta type IIC (disorder)
Definitions

Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.
ID

http://purl.bioontology.org/ontology/SNOMEDCT/1197018005
Active

1
altLabel

Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs

Osteogenesis imperfecta type IIC (disorder)
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009
CTV3ID

XVHbM
cui

C4015949
definition

Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.
DEFINITION STATUS ID

900000000000074008
Effective time

20220228
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

1197018005
Occurs in

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

Osteogenesis imperfecta type IIC
Subset member

447562003~MAPADVICE~ALWAYS Q78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION

447562003~MAPRULE~TRUE

447562003~MAPTARGET~Q78.0

6011000124106~MAPADVICE~ALWAYS Q78.0

6011000124106~MAPGROUP~1

900000000000497000~MAPTARGET~XVHbM

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~Q78.0

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T033
Type ID

900000000000003001

900000000000013009
subClassOf

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