FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

720816004: syndroom van craniosynostose en intracraniële calcificaties (aandoening)


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
3322164018 Craniosynostosis and intracranial calcification syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322165017 Craniosynostosis and intracranial calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322166016 Longman Tolmie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6113681000146118 syndroom van Longman-Tolmie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723211000146110 syndroom van craniosynostose en intracraniële calcificaties (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723221000146117 syndroom van craniosynostose en intracraniële calcificaties nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322167013 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322168015 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. 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
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Disorder of basal ganglia (disorder) false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Extraskeletal calcification false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Lesion of brain false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology Pathologic calcification false Inferred relationship Some 4
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Basal ganglion structure (body structure) false Inferred relationship Some 4
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 5
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 5
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Cerebral calcification false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Anomalies of cerebrum false Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 2
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Bone structure of cranium true Inferred relationship Some 4
Craniosynostosis and intracranial calcification syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 2
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Disorder of skull (disorder) true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Congenital degeneration of nervous system true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Calcification of basal ganglia (disorder) true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 2
Craniosynostosis and intracranial calcification syndrome (disorder) Is a Congenital neurological disorder (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start