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19550003: 22q partial monosomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4555248013 22q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555249017 22q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1982651000005114 partiel monosomi 22q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Some
22q partial monosomy (disorder) Is a Anomaly of chromosome pair 22 false Inferred relationship Some
22q partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Occurrence Congenital false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology kongenit anomali false Inferred relationship Some 1
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology kongenit anomali false Inferred relationship Some
22q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 1
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 1
22q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 2
22q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
22q partial monosomy (disorder) Finding site Chromosome pair 22 true Inferred relationship Some 2
22q partial monosomy (disorder) Is a Deletion of part of chromosome 22 (disorder) true Inferred relationship Some
22q partial monosomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. Is a True 22q partial monosomy (disorder) Inferred relationship Some
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Is a True 22q partial monosomy (disorder) Inferred relationship Some
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Is a True 22q partial monosomy (disorder) Inferred relationship Some
22q11 partial monosomy syndrome Is a False 22q partial monosomy (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

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