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720576001: calcification cérébrale type Rajab (trouble)


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
755681000241118 calcification cérébrale type Rajab (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
887411000172119 calcification cérébrale type Rajab fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation 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) localisation d'une constatation (attribut) Structure of cerebral cortex (body structure) true Inferred relationship Some 2
Brain calcification Rajab type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) survenue (attribut) congénital 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) morphologie associée (attribut) Pathologic calcification, calcified structure (morphologic abnormality) true Inferred relationship Some 2
Brain calcification Rajab type (disorder) est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Calcification of basal ganglia (disorder) true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Disorder of basal ganglia (disorder) false Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Disorder of cerebral cortex true Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) calcification extrasquelettique false Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) lésion cérébrale false Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Brain calcification Rajab type (disorder) morphologie associée (attribut) Pathologic calcification, calcified structure (morphologic abnormality) true Inferred relationship Some 3
Brain calcification Rajab type (disorder) localisation d'une constatation (attribut) Structure of cerebral cortex (body structure) false Inferred relationship Some 3
Brain calcification Rajab type (disorder) morphologie associée (attribut) Pathologic calcification, calcified structure (morphologic abnormality) false Inferred relationship Some 4
Brain calcification Rajab type (disorder) localisation d'une constatation (attribut) Basal ganglion structure (body structure) false Inferred relationship Some 4
Brain calcification Rajab type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Brain calcification Rajab type (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Brain calcification Rajab type (disorder) localisation d'une constatation (attribut) Basal ganglion structure (body structure) true Inferred relationship Some 3
Brain calcification Rajab type (disorder) est un(e) (attribut) calcification cérébrale false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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