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773670004: Distal Xq28 microduplication 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
3725602017 Distal Xq28 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725603010 Distal Xq28 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725604016 Distal trisomy Xq28 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725605015 A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725606019 A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725602017 Distal Xq28 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725603010 Distal Xq28 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725604016 Distal trisomy Xq28 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3725605015 A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725606019 A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3381481001000112 Mikroduplikationssyndrom Xq28, distal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934351000172115 dup(X)q(28) distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938581000172114 syndrome de microduplication Xq28 distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934351000172115 dup(X)q(28) distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938581000172114 syndrome de microduplication Xq28 distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381481001000112 Mikroduplikationssyndrom Xq28, distal 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
Distal Xq28 microduplication syndrome (disorder) Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal Xq28 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal Xq28 microduplication syndrome (disorder) Is a Xq28-Duplikationssyndrom, proximales false Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal Xq28 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal Xq28 microduplication syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Interprets Intellectual ability (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal Xq28 microduplication syndrome (disorder) Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal Xq28 microduplication syndrome (disorder) Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal Xq28 microduplication syndrome (disorder) Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal Xq28 microduplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Finding site Sex chromosome X (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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