720816004: Craniosynostosis and intracranial calcification syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

\Finding of brain\Disorder of brain (disorder)\...

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

\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Craniosynostosis and intracranial calcification syndrome (disorder)

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Craniosynostosis and intracranial calcification syndrome (disorder)

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

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

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

\Skull finding\Disorder of skull (disorder)\Craniosynostosis and intracranial calcification syndrome (disorder)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3322165017 Craniosynostosis and intracranial calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322166016 Longman Tolmie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

903811000172116 syndrome de craniosynostose-calcifications intracrâniennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

975281000172119 syndrome de Longman-Tolmie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

920131000172119 craniosynostose, intracraniële calcificaties-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

998661000172112 syndroom van Longman-Tolmie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322164018	Craniosynostosis and intracranial calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322165017	Craniosynostosis and intracranial calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322166016	Longman Tolmie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
903811000172116	syndrome de craniosynostose-calcifications intracrâniennes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
975281000172119	syndrome de Longman-Tolmie	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
920131000172119	craniosynostose, intracraniële calcificaties-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
998661000172112	syndroom van Longman-Tolmie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)