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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
1991211000005115 partiel monosomi 8q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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 Some
8q partial monosomy syndrome Is a Anomaly of chromosome pair 8 false Inferred relationship Some
8q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
8q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology kongenit anomali false Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 2
8q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some
8q partial monosomy syndrome Associated morphology kongenit anomali false Inferred relationship Some
8q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
8q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
8q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
8q partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
8q partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Some 2
8q partial monosomy syndrome Is a Deletion of part of chromosome 8 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. Is a True 8q partial monosomy syndrome Inferred relationship Some
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Is a True 8q partial monosomy syndrome Inferred relationship Some
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 Some
Distal deletion of long arm of chromosome 8 (disorder) Is a True 8q partial monosomy syndrome Inferred relationship Some
Proximal deletion of long arm of chromosome 8 Is a True 8q partial monosomy syndrome Inferred relationship Some
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 Some

This concept is not in any reference sets

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