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\Disorder of brain\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\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\Disorder of brain\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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\Disorder of brain\...

\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\Disorder of brain\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Disorder of brain\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disorder of head\Disorder of brain\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of brain\Lesion of brain\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Disorder of brain\Disorder of basal ganglia\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Calcification of basal ganglia\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\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 malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis and intracranial calcification syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322164018 Craniosynostosis and intracranial calcification syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322165017 Craniosynostosis and intracranial calcification syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3322166016 Longman Tolmie syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis and intracranial calcification syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Disorder of basal ganglia	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Extraskeletal calcification	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Lesion of brain	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Pathologic calcification, calcified structure	false	Inferred relationship	Existential restriction modifier	4
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Craniosynostosis and intracranial calcification syndrome	Finding site	Basal ganglion structure	false	Inferred relationship	Existential restriction modifier	4
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	5
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Craniosynostosis and intracranial calcification syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	5
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Craniosynostosis and intracranial calcification syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Craniosynostosis and intracranial calcification syndrome	Is a	Cerebral calcification	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis and intracranial calcification syndrome	Is a	Anomalies of cerebrum	false	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis and intracranial calcification syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis and intracranial calcification syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis and intracranial calcification syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	4
Craniosynostosis and intracranial calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Pathologic calcification, calcified structure	true	Inferred relationship	Existential restriction modifier	3
Craniosynostosis and intracranial calcification syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis and intracranial calcification syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis and intracranial calcification syndrome	Finding site	Basal ganglion structure	true	Inferred relationship	Existential restriction modifier	3
Craniosynostosis and intracranial calcification syndrome	Is a	Disorder of skull	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Calcification of basal ganglia	true	Inferred relationship	Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3322164018	Craniosynostosis and intracranial calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322165017	Craniosynostosis and intracranial calcification syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322166016	Longman Tolmie syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module