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

254274004: Deletion of part of autosome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378508010 Deletion of part of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645144014 Deletion of part of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
378508010 Deletion of part of autosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
378508010 Deletion of part of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645144014 Deletion of part of autosome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
645144014 Deletion of part of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5083361000241113 délétion d'une partie de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5083361000241113 délétion d'une partie de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

242 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of autosome Is a Monosomy and deletion from autosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of autosome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of autosome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of autosome Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of autosome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Finding site Chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
10q partial monosomy (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
8p partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
7p partial monosomy Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
12p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
4q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
15q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
5p partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
7q partial monosomy Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of short arm of chromosome 18 (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Other deletions of part of a chromosome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Other deletion of part of a chromosome NOS Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Other deletions from the autosomes Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Monosomies and deletions from the autosomes NOS Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other deletions of part of a chromosome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
22q11 partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
3p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
13q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
18q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
18p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 17 Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
1q41q42 microdeletion syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
3q29 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 6p (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
12q14 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
14q11.2 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
15q14 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
16p11.2p12.2 microdeletion syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
20p12.3 microdeletion syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
2p15p16.1 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
2q23.1 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
6p22 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
6q25 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
6q terminal deletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion 5q35 (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp22.3 microdeletion syndrome Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 2 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 3 Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 4 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 5 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 6 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 7 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 8 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 9 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 10 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 11 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 12 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 13 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 14 Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 15 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 16 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 17 Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 18 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 19 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 20 Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 21 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 22 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 1 (disorder) Is a True Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Is a False Deletion of part of autosome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start