FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5402479010 A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402480013 A rare syndromic craniosynostosis characterised by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
5402479010 A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402480013 A rare syndromic craniosynostosis characterised by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423381001000119 Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825821000241116 syndrome de craniosynostose, hydrocéphalie, malformation d'Arnold-Chiari de type I et synostose radio-ulnaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825831000241119 syndrome de Capra-DeMarco fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825841000241112 syndrome de Berant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825821000241116 syndrome de craniosynostose, hydrocéphalie, malformation d'Arnold-Chiari de type I et synostose radio-ulnaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825831000241119 syndrome de Capra-DeMarco fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5825841000241112 syndrome de Berant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423381001000119 Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose 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
Capra DeMarco syndrome Is a Radioulnar synostosis false Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Congenital hydrocephalus true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Congenital anomaly of skull false Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Craniosynostosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Chiari malformation type I (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Capra DeMarco syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Capra DeMarco syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Capra DeMarco syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 8
Capra DeMarco syndrome Finding site Structure of bone of forearm (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Capra DeMarco syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
Capra DeMarco syndrome Finding site Structure of sagittal suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 7
Capra DeMarco syndrome Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Capra DeMarco syndrome Finding site Brain tissue structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Capra DeMarco syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Capra DeMarco syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Capra DeMarco syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Capra DeMarco syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Capra DeMarco syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Finding site Structure of bone of forearm (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Capra DeMarco syndrome Finding site Structure of brain cerebrospinal fluid pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Capra DeMarco syndrome Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Capra DeMarco syndrome Finding site Brain tissue structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Finding site Structure of sagittal suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 4
Capra DeMarco syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Capra DeMarco syndrome Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Finding site Bone structure of radius true Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Capra DeMarco syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a Congenital radioulnar synostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Capra DeMarco syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start