107675007: Chromosomal morphology (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Chromosomal morphology

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

172111013 Chromosomal morphology en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

593454016 Chromosomal morphology (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosomal morphology	Is a	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chromosomal translocation	Is a	True	Chromosomal morphology	Inferred relationship	Some
Alteration of chromosome structure	Is a	True	Chromosomal morphology	Inferred relationship	Some
Karyotype morphology	Is a	True	Chromosomal morphology	Inferred relationship	Some
Karyotype 46, X iso (Xq)	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Mosaicism 45, X / other cell line with abnormal sex chromosome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner syndrome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	3
Turner's phenotype, karyotype normal	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
[X]Other variants of Turner's syndrome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Ovarian dwarfism NEC	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Bonnevie-Ullrich syndrome NOS	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype, other variant karyotypes	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's syndrome NOS	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Mosaicism 45, X / other cell line with abnormal sex chromosome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner syndrome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Bonnevie-Ullrich syndrome NOS	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Ovarian dwarfism NEC	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner's syndrome NOS	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner's phenotype, other variant karyotypes	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Karyotype 46, X iso (Xq)	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Turner's phenotype, karyotype normal	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Fetal Turner syndrome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some
Trisomy X syndrome	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Fetal Turner syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
Turner's phenotype, karyotype normal	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
XXXXY syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
XX males	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Penta X syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Karyotype 46, X iso (Xq)	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Mosaicism - lines with various numbers of X chromosomes	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Anomaly of chromosome X	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
fraxa	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	1
XXXY syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Fragile X chromosome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	2
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis.	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
fraxe	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	2
Monosomy X	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
Mosaicism 45, X or other cell line with abnormal sex chromosome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	Associated morphology	False	Chromosomal morphology	Inferred relationship	Some	1
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	3
Fragile X syndrome	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1
Carrier of fragile X chromosome (finding)	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	3
A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).	Associated morphology	True	Chromosomal morphology	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
172111013	Chromosomal morphology	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593454016	Chromosomal morphology (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core