720816004: Craniosynostosis and intracranial calcification syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome

\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Finding of head region\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome

\Skull finding\Disorder of skull\Craniosynostosis and intracranial calcification syndrome

\Disorder of head\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Encephalopathy\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis and intracranial calcification syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniosynostosis and intracranial calcification syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322164018 Craniosynostosis and intracranial calcification syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322165017 Craniosynostosis and intracranial calcification syndrome en Synonym Active Case insensitive SNOMED CT core

3322166016 Longman Tolmie syndrome en Synonym Active Case sensitive SNOMED CT core

3322167013 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

3322168015 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited 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
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis and intracranial calcification syndrome	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis and intracranial calcification syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis and intracranial calcification syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	4
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	3
Craniosynostosis and intracranial calcification syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Craniosynostosis and intracranial calcification syndrome	Finding site	Basal ganglion structure	true	Inferred relationship	Some	3
Craniosynostosis and intracranial calcification syndrome	Is a	Disorder of skull	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Calcification of basal ganglia	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Disorder of basal ganglia	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Extraskeletal calcification	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Lesion of brain	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Pathologic calcification	false	Inferred relationship	Some	4
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Craniosynostosis and intracranial calcification syndrome	Finding site	Basal ganglion structure	false	Inferred relationship	Some	4
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Craniosynostosis and intracranial calcification syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome	Is a	Cerebral calcification	false	Inferred relationship	Some

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
3322164018	Craniosynostosis and intracranial calcification syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322165017	Craniosynostosis and intracranial calcification syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322166016	Longman Tolmie syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322167013	A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core
3322168015	A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core