Concept information
Término preferido
Chromosome Disorders
Notice: Undefined index: in /var/www/html/model/Concept.php on line 545
Tipo
-
mesh:Descriptor
Definición
- Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Concepto genérico
Conceptos específicos
- 22q11 Deletion Syndrome
- Angelman Syndrome
- Beckwith-Wiedemann Syndrome
- Branchio-Oto-Renal Syndrome
- Cri-du-Chat Syndrome
- De Lange Syndrome
- Down Syndrome
- Holoprosencephaly
- Jacobsen Distal 11q Deletion Syndrome
- Prader-Willi Syndrome
- Rubinstein-Taybi Syndrome
- Sex Chromosome Disorders
- Silver-Russell Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Trisomy 13 Syndrome
- Trisomy 18 Syndrome
- WAGR Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
Etiquetas alternativas
- Chromosomal Disorders
- Chromosome Abnormality Disorders
En otras lenguas
-
francés
-
Maladies par aberrations chromosomiques
-
Troubles chromosomiques
URI
http://data.loterre.fr/ark:/67375/JVR-CS1KZF68-9
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}