Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Preferred Name | Trichorhinophalangeal Syndrome Type II | |
| Synonyms |
Trichorhinophalangeal Syndrome Type II Langer-Giedion Syndrome |
|
| Definitions |
A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75118 |
|
| code |
C75118
|
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus
|
|
| DEFINITION |
A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.
|
|
| FULL_SYN |
Trichorhinophalangeal Syndrome Type II Langer-Giedion Syndrome
|
|
| label |
Trichorhinophalangeal Syndrome Type II
|
|
| Legacy Concept Name |
Trichorhinophalangeal_Syndrome_Type_II
|
|
| Preferred_Name |
Trichorhinophalangeal Syndrome Type II
|
|
| prefixIRI |
Thesaurus:C75118
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0023003
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping