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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) 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) survenue (attribut) congénital true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Structure of bone of forearm (body structure) false Inferred relationship Some 1
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 2
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 3
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) structure du tissu encéphalique false Inferred relationship Some 3
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Structure of sagittal suture of skull true Inferred relationship Some 4
Capra DeMarco syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 2
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 3
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) ulna true Inferred relationship Some 1
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) radius (structure corporelle) true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) Radioulnar synostosis true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) anomalie congénitale du crâne (trouble) false Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) malformation de Chiari de type 1 true Inferred relationship Some
Capra DeMarco syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Capra DeMarco syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Capra DeMarco syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 5
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 5
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Structure of bone of forearm (body structure) false Inferred relationship Some 8
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) Structure of sagittal suture of skull false Inferred relationship Some 7
Capra DeMarco syndrome (disorder) morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 6
Capra DeMarco syndrome (disorder) localisation d'une constatation (attribut) structure du tissu encéphalique false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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