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107675007: Chromosomal morphology (morphologic abnormality)

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
172111013 Chromosomal morphology en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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

54 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosomal morphology (morphologic abnormality) Is a Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Chromosomal translocation Is a True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Alteration of chromosome structure Is a True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype morphology Is a True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype 46, X iso (Xq) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype - ring chromosome karyotype Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaicism 45, X; 46, XX Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner syndrome (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Turner's phenotype, karyotype normal (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype, partial X deletion karyotype (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
[X]Other variants of Turner's syndrome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ovarian dwarfism NEC Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bonnevie-Ullrich syndrome NOS Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype, other variant karyotypes Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's syndrome NOS Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype, partial X deletion karyotype (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism 45, X; 46, XX Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner syndrome (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Bonnevie-Ullrich syndrome NOS Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype - ring chromosome karyotype Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Ovarian dwarfism NEC Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner's syndrome NOS Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, other variant karyotypes Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype 46, X iso (Xq) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, karyotype normal (disorder) Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with Turner syndrome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy X syndrome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner syndrome (disorder) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetus with Turner syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Turner's phenotype, karyotype normal (disorder) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
XXXXY syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
XX males Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Penta X syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Karyotype 46, X iso (Xq) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype, partial X deletion karyotype (disorder) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Turner's phenotype - ring chromosome karyotype Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome X Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
fraxa Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed gonadal dysgenesis Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
XXXY syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fragile X chromosome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter syndrome, male with 46,XX karyotype Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaicism 45, X; 46, XX Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Four X syndrome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
fraxe Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomy X Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic Turner syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaicism 45, X or other cell line with abnormal sex chromosome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
FRAXE intellectual disability syndrome (disorder) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Associated morphology False Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Fragile X syndrome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Carrier of fragile X chromosome Associated morphology True Chromosomal morphology (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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