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389239007: Raine dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Raine dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Raine dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Raine dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Raine dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Neonatal osteosclerotic dysplasia\Raine dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Neonatal osteosclerotic dysplasia\Raine dysplasia

Status: current, Primitive. Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1463418014 Raine dysplasia (disorder) en Fully specified name Active Case sensitive SNOMED CT core

1483278014 Raine dysplasia en Synonym Active Case sensitive SNOMED CT core

3788357017 Raine syndrome en Synonym Active Case sensitive SNOMED CT core

3788358010 Lethal osteosclerotic bone dysplasia en Synonym Active Case insensitive SNOMED CT core

3788359019 A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

3788360012 A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Raine dysplasia	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Raine dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Raine dysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Raine dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Raine dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Raine dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Raine dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Raine dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Raine dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Raine dysplasia	Is a	Neonatal osteosclerotic dysplasia	true	Inferred relationship	Some
Raine dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Raine dysplasia	Occurrence	Neonatal	false	Inferred relationship	Some	2
Raine dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Raine dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Raine dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1463418014	Raine dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
1483278014	Raine dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3788357017	Raine syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3788358010	Lethal osteosclerotic bone dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3788359019	A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core
3788360012	A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core