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720815000: Capra DeMarco syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
1820731000168112 Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome en Synonym Active Initial character case insensitive SNOMED Clinical Terms Australian extension
3322158013 Capra DeMarco syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3322159017 Capra DeMarco syndrome en Synonym Active Case sensitive SNOMED CT core
3322160010 Familial scaphocephaly with radioulnar synostosis syndrome en Synonym Active Case insensitive SNOMED CT core
3322161014 Berant syndrome en Synonym Active Case sensitive SNOMED CT core
3322162019 Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis en Synonym Active Initial character case insensitive SNOMED CT core
3322163012 Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital true Inferred relationship Some 4
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital true Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital true Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Bone structure of radius and/or ulna false Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital dilatation false Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Brain CSF pathway true Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital protrusion false Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital premature fusion true Inferred relationship Some 4
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Brain tissue structure false Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Structure of sagittal suture of skull true Inferred relationship Some 4
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Dilatation true Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Cerebellar structure true Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Hernia true Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Bone structure of ulna true Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Bone structure of radius true Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Genetic disease true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Radioulnar synostosis true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Congenital hydrocephalus true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Congenital anomaly of skull false Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a Chiari malformation type I true Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital true Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital false Inferred relationship Some 6
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital false Inferred relationship Some 7
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence Congenital false Inferred relationship Some 8
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital dilatation false Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Brain CSF pathway false Inferred relationship Some 5
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 8
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Bone structure of radius and/or ulna false Inferred relationship Some 8
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 7
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Structure of sagittal suture of skull false Inferred relationship Some 7
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Associated morphology Congenital protrusion false Inferred relationship Some 6
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Finding site Brain tissue structure false Inferred relationship Some 6

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

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