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111312006: Anomaly of chromosome X (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
178544019 Anomaly of chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
630219013 Anomaly of chromosome X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
178544019 Anomaly of chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
630219013 Anomaly of chromosome X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4750091000241114 anomalie du chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4750091000241114 anomalie du chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

49 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome X Is a Anomaly of sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Is a Congenital chromosomal disease false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Is a Anomaly of sex chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome X Associated morphology Chromosomal morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome X Finding site Sex chromosome X (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Fragile X chromosome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Female with more than three X chromosomes (disorder) Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism - lines with various numbers of X chromosomes Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
A male with two or more X chromosomes. Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy X syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Turner syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
XXXXY syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
XX males Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
XXXY syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Four X syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome - male with more than two X chromosomes Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Penta X syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
A male with two or more X chromosomes. Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Xq28-Duplikationssyndrom, proximales Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Microduplication Xp11.22p11.23 syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp22.3 microdeletion syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Xq12-q13.3 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Small ring X chromosome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
X-linked acrogigantism Is a False Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated. Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome X Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome X Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
X-linked acrogigantism due to Xq26 microduplication Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Is a True Anomaly of chromosome X Inferred relationship Existential restriction modifier (core metadata concept)

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