FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

723332005: Isodicentric chromosome 15 syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424112014 Isodicentric chromosome 15 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424113016 Isodicentric chromosome 15 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424114010 Duplication/inversion 15q11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424115011 Isodicentric 15 chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424116012 Inverted duplication 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424117015 Non-distal tetrasomy 15q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403003011 A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403004017 A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterised by early central hypotonia, global developmental delay and intellectual deficit, autistic behaviour, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424112014 Isodicentric chromosome 15 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424113016 Isodicentric chromosome 15 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424114010 Duplication/inversion 15q11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424115011 Isodicentric 15 chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424116012 Inverted duplication 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424117015 Non-distal tetrasomy 15q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424118013 A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424119017 A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403003011 A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403004017 A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterised by early central hypotonia, global developmental delay and intellectual deficit, autistic behaviour, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453521001000112 Inversion/Duplikation Chromosom 15 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056541000241115 tétrasomie non distale 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056551000241117 syndrome du chromosome 15 isodicentrique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056561000241119 syndrome de duplication inversée du chromosome 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056541000241115 tétrasomie non distale 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056551000241117 syndrome du chromosome 15 isodicentrique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056561000241119 syndrome de duplication inversée du chromosome 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453521001000112 Inversion/Duplikation Chromosom 15 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
Isodicentric chromosome 15 syndrome Is a Anomaly of chromosome pair 15 true Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Is a Pervasive developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Finding site Chromosome pair 15 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Isodicentric chromosome 15 syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Isodicentric chromosome 15 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Associated morphology Tetrasomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Isodicentric chromosome 15 syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Isodicentric chromosome 15 syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Isodicentric chromosome 15 syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start