FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

720813007: Craniosynostosis with Dandy-Walker malformation and hydrocephalus 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
3320107018 Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320108011 Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322152014 Braddock Jones Superneau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322153016 A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
10718551000172110 syndrome de craniosynostose, malformation de Dandy-Walker et hydrocéphalie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
10718561000172112 syndrome de Braddock-Jones-Superneau fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5268171000172114 syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocefalie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5268181000172112 syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocephalus nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5268191000172110 syndroom van Braddock-Jones-Superneau nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Face structure false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Bone structure of cranium true Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Disorder of skull (disorder) true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start