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720576001: Brain calcification Rajab type (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
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
5402416012 A rare, inherited disorder characterized by widespread calcifications of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402417015 A rare, inherited disorder characterised by widespread calcifications of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5402416012 A rare, inherited disorder characterized by widespread calcifications of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402417015 A rare, inherited disorder characterised by widespread calcifications of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3390661001000114 Verkalkung des Gehirns vom Typ Rajab de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887411000172119 calcification cérébrale type Rajab fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887411000172119 calcification cérébrale type Rajab fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390661001000114 Verkalkung des Gehirns vom Typ Rajab de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Disorder of cerebral cortex (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a calcification extrasquelettique false Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Lesion of brain (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brain calcification Rajab type (disorder) Finding site Cerebral cortex false Inferred relationship Existential restriction modifier (core metadata concept) 3
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification false Inferred relationship Existential restriction modifier (core metadata concept) 4
Brain calcification Rajab type (disorder) Finding site Basal ganglion structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Brain calcification Rajab type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Brain calcification Rajab type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Brain calcification Rajab type (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brain calcification Rajab type (disorder) Is a Cerebral calcification false Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Finding site Cerebral cortex true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brain calcification Rajab type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brain calcification Rajab type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brain calcification Rajab type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain calcification Rajab type (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brain calcification Rajab type (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Calcification of basal ganglia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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