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

78901007: Chromosome pair 4 (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
130909016 Chromosome pair 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204750015 Chromosome pair 4 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
130909016 Chromosome pair 4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
130909016 Chromosome pair 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819893019 Chromosome pair 4 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204750015 Chromosome pair 4 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204750015 Chromosome pair 4 (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 4 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 4 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
4p partial monosomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial monosomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial trisomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 4 syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 4 Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial trisomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 4 syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial trisomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial trisomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 4 Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial monosomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 4 syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial trisomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial trisomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial monosomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
4q partial monosomy syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Finding site False Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 3
4q21 microdeletion syndrome (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
4q21 microdeletion syndrome (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 3
4p16.3 microduplication syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 4 (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 4 (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 4q (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 4 syndrome (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 4 syndrome (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 4q Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 4q Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 3
Paternal uniparental disomy of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 4 (disorder) Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 4 Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 3
4q25 proximal deletion syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 1
4q25 proximal deletion syndrome Finding site True Chromosome pair 4 Inferred relationship Existential restriction modifier (core metadata concept) 4

This concept is not in any reference sets

Back to Start