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

770604006: X-linked cerebral, cerebellar, coloboma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701526013 X-linked cerebral, cerebellar, coloboma syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701527016 X-linked intellectual disability Kroes type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701528014 X-linked cerebral, cerebellar, coloboma syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701258016 A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4289131000172112 X-gebonden mentale retardatie type Kroes nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4289141000172117 X-gebonden cerebraal-cerebellair-coloboomsyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Congenital cerebellar hypoplasia true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Finding site Eye structure true Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 3
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Some 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start