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720576001: Brain calcification Rajab type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3321301017 Brain calcification Rajab type en Synonym Active Initial character case insensitive SNOMED CT core
3321302012 Rajab syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brain calcification Rajab type Finding site Structure of cerebral cortex true Inferred relationship Some 2
Brain calcification Rajab type Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Brain calcification Rajab type Pathological process Pathological developmental process true Inferred relationship Some 2
Brain calcification Rajab type Occurrence Congenital true Inferred relationship Some 1
Brain calcification Rajab type Pathological process Pathological developmental process true Inferred relationship Some 3
Brain calcification Rajab type Pathological process Pathological developmental process true Inferred relationship Some 1
Brain calcification Rajab type Associated morphology Pathologic calcification true Inferred relationship Some 2
Brain calcification Rajab type Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Brain calcification Rajab type Is a Calcification of basal ganglia true Inferred relationship Some
Brain calcification Rajab type Is a Developmental hereditary disorder true Inferred relationship Some
Brain calcification Rajab type Is a Disorder of basal ganglia false Inferred relationship Some
Brain calcification Rajab type Is a Multiple system malformation syndrome true Inferred relationship Some
Brain calcification Rajab type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Brain calcification Rajab type Is a Disorder of cerebral cortex true Inferred relationship Some
Brain calcification Rajab type Is a Extraskeletal calcification false Inferred relationship Some
Brain calcification Rajab type Is a Lesion of brain false Inferred relationship Some
Brain calcification Rajab type Is a Hereditary disorder of nervous system false Inferred relationship Some
Brain calcification Rajab type Associated morphology Pathologic calcification true Inferred relationship Some 3
Brain calcification Rajab type Finding site Structure of cerebral cortex false Inferred relationship Some 3
Brain calcification Rajab type Associated morphology Pathologic calcification false Inferred relationship Some 4
Brain calcification Rajab type Finding site Basal ganglion structure false Inferred relationship Some 4
Brain calcification Rajab type Associated morphology Developmental abnormality false Inferred relationship Some 5
Brain calcification Rajab type Occurrence Congenital false Inferred relationship Some 5
Brain calcification Rajab type Finding site Basal ganglion structure true Inferred relationship Some 3
Brain calcification Rajab type Is a Cerebral calcification false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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