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720815000: Capra DeMarco 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
3322158013 Capra DeMarco syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322159017 Capra DeMarco syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322160010 Familial scaphocephaly with radioulnar synostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322161014 Berant syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322162019 Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Capra DeMarco syndrome (disorder) Is a Radioulnar synostosis false Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Congenital anomaly of skull false Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Chiari malformation type I (disorder) true Inferred relationship Some
Capra DeMarco syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Capra DeMarco syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) Finding site Structure of sagittal suture of skull false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) Associated morphology Congenital protrusion false Inferred relationship Some 6
Capra DeMarco syndrome (disorder) Finding site Brain tissue structure false Inferred relationship Some 6
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Associated morphology Congenital protrusion false Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Finding site Brain tissue structure false Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Finding site Structure of sagittal suture of skull true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Finding site Cerebellar structure true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a Congenital radioulnar synostosis true Inferred relationship Some
Capra DeMarco syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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