1228858000: Complex lethal osteochondrodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Complex lethal osteochondrodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Complex lethal osteochondrodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Complex lethal osteochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Complex lethal osteochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Complex lethal osteochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Complex lethal osteochondrodysplasia

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5063476015 Complex lethal osteochondrodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5063477012 Complex lethal osteochondrodysplasia en Synonym Active Case insensitive SNOMED CT core

5063478019 Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type en Synonym Active Initial character case insensitive SNOMED CT core

5063479010 A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. en Definition Active Case sensitive SNOMED CT core

5063480013 A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Complex lethal osteochondrodysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Complex lethal osteochondrodysplasia	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Complex lethal osteochondrodysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Complex lethal osteochondrodysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Complex lethal osteochondrodysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Complex lethal osteochondrodysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Complex lethal osteochondrodysplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Complex lethal osteochondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Complex lethal osteochondrodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Complex lethal osteochondrodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Complex lethal osteochondrodysplasia	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
5063476015	Complex lethal osteochondrodysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5063477012	Complex lethal osteochondrodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
5063478019	Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5063479010	A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated.	en	Definition	Active	Case sensitive	SNOMED CT core
5063480013	A rare genetic primary bone dysplasia with decreased bone density with characteristics of fetal lethality, severe hypomineralisation of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs and kidneys have also been associated.	en	Definition	Active	Case sensitive	SNOMED CT core