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

11698001: Chromosome pair 18 (cell structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
20208011 Chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1185886016 Chromosome pair 18 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
20208011 Chromosome pair 18 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
20208011 Chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
684249017 Chromosome pair 18 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1185886016 Chromosome pair 18 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1185886016 Chromosome pair 18 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 18 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 18 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 18 in Edward's syndrome (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 18 Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Edward's syndrome NOS Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
18q partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 18 Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 18 in Edward's syndrome (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial trisomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 18 syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 18 in Edward's syndrome (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - meiotic nondisjunction (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 18 Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 18p Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 18 syndrome (disorder) Finding site False Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 3
18q partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
18p partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal chromosome 18q deletion syndrome (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal chromosome 18q deletion syndrome (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal chromosome 18q deletion syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal chromosome 18q deletion syndrome Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 18q Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 3
Fetus with complete trisomy 18 syndrome (disorder) Finding site True Chromosome pair 18 Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

Back to Start