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29379007: 8q partial monosomy syndrome (disorder)

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
49153016 8q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
760266018 8q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
49153016 8q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
760266018 8q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
760266018 8q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4484701000241114 monosomie partielle 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4484701000241114 monosomie partielle 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
8q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Is a Anomaly of chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Is a Deletion of part of chromosome 8 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
8q21.11 microdeletion syndrome (disorder) Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
8q22.1 microdeletion syndrome (disorder) Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 8 (disorder) Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 8 Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True 8q partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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