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720816004: 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
5402481012 Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, 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
5402482017 Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterised by pancraniosynostosis, head circumference below the mid-parental head circumference, 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
3322164018 Craniosynostosis and intracranial calcification syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402481012 Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, 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
5402482017 Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterised by pancraniosynostosis, head circumference below the mid-parental head circumference, 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
3411611001000112 Kraniosynostose-intrakranielle Kalzifizierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903811000172116 syndrome de craniosynostose-calcifications intracrâniennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975281000172119 syndrome de Longman-Tolmie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903811000172116 syndrome de craniosynostose-calcifications intracrâniennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975281000172119 syndrome de Longman-Tolmie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411611001000112 Kraniosynostose-intrakranielle Kalzifizierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

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 (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Disorder of basal ganglia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a calcification extrasquelettique false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Lesion of brain (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Associated morphology Pathologic calcification false Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis and intracranial calcification syndrome Finding site Basal ganglion structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis and intracranial calcification syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis and intracranial calcification syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis and intracranial calcification syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis and intracranial calcification syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis and intracranial calcification syndrome Is a Cerebral calcification false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and intracranial calcification syndrome Is a Anomalies of cerebrum false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis and intracranial calcification syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and intracranial calcification syndrome Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and intracranial calcification syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and intracranial calcification syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis and intracranial calcification syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis and intracranial calcification syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and intracranial calcification syndrome Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis and intracranial calcification syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and intracranial calcification syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and intracranial calcification syndrome Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis and intracranial calcification syndrome Is a Disease of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Calcification of basal ganglia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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