1197018005: Osteogenesis imperfecta type IIC (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIC

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4694534014 Osteogenesis imperfecta type IIC (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

4694535010 Osteogenesis imperfecta type IIC en Synonym Active Initial character case insensitive SNOMED CT core

4694537019 Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs en Synonym Active Case insensitive SNOMED CT core

4694536011 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta type IIC	Is a	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta type IIC	Interprets	Bone formation	true	Inferred relationship	Some	2
Osteogenesis imperfecta type IIC	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta type IIC	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIC	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIC	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIC	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4694534014	Osteogenesis imperfecta type IIC (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4694535010	Osteogenesis imperfecta type IIC	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4694537019	Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs	en	Synonym	Active	Case insensitive	SNOMED CT core
4694536011	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.	en	Definition	Active	Case sensitive	SNOMED CT core