763346009: Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Finding of movement\Motor dysfunction\Akinesia\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Fetal akinesia, cerebral and retinal haemorrhage syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Fetal akinesia, cerebral and retinal haemorrhage syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Fetal akinesia, cerebral and retinal haemorrhage syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3638633012 Fetal akinesia, cerebral and retinal haemorrhage syndrome en Synonym Active Case insensitive SNOMED CT core

3638634018 Lethal congenital contracture syndrome type 5 en Synonym Active Case insensitive SNOMED CT core

3638635017 Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3638636016 Fetal akinesia, cerebral and retinal hemorrhage syndrome en Synonym Active Case insensitive SNOMED CT core

3780929019 Foetal akinesia, cerebral and retinal haemorrhage syndrome en Synonym Active Case insensitive SNOMED CT core

3638637013 A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. en Definition Active Case sensitive SNOMED CT core

3638638015 A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Akinesia	true	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	3
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Arthrogryposis	false	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Finding site	Joint structure	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
3638633012	Fetal akinesia, cerebral and retinal haemorrhage syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638634018	Lethal congenital contracture syndrome type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3638635017	Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638636016	Fetal akinesia, cerebral and retinal hemorrhage syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3780929019	Foetal akinesia, cerebral and retinal haemorrhage syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638637013	A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	en	Definition	Active	Case sensitive	SNOMED CT core
3638638015	A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate.	en	Definition	Active	Case sensitive	SNOMED CT core