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720576001: cerebrale calcificatie van Rajab-type (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
3321300016 Brain calcification Rajab type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321301017 Brain calcification Rajab type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321302012 Rajab syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6722601000146115 cerebrale calcificatie van Rajab-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13107771000146114 hersencalcinose van Rajab-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13107851000146113 cerebrale calcificatie van Rajab-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321303019 An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive. 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
Brain calcification Rajab type (disorder) Is a Disorder of basal ganglia (disorder) false Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Disorder of cerebral cortex (disorder) true Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Extraskeletal calcification false Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Lesion of brain false Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 3
Brain calcification Rajab type (disorder) Finding site Structure of cerebral cortex (body structure) false Inferred relationship Some 3
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification false Inferred relationship Some 4
Brain calcification Rajab type (disorder) Finding site Basal ganglion structure (body structure) false Inferred relationship Some 4
Brain calcification Rajab type (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Brain calcification Rajab type (disorder) Occurrence Congenital false Inferred relationship Some 5
Brain calcification Rajab type (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 3
Brain calcification Rajab type (disorder) Is a Cerebral calcification false Inferred relationship Some
Brain calcification Rajab type (disorder) Finding site Structure of cerebral cortex (body structure) true Inferred relationship Some 2
Brain calcification Rajab type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brain calcification Rajab type (disorder) Occurrence Congenital true Inferred relationship Some 1
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 2
Brain calcification Rajab type (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Calcification of basal ganglia (disorder) true Inferred relationship Some
Brain calcification Rajab type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Brain calcification Rajab type (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

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