Trichorhinophalangeal Syndrome Type II

Preferred Label : Trichorhinophalangeal Syndrome Type II;

NCIt synonyms : Langer-Giedion Syndrome;

NCIt 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.;

Details

Origin ID

C75118;

UMLS CUI

C0023003;

Currated CISMeF NLP mapping
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [ICD-11 Sub-sub category]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
- Trichorhinophalangeal syndrome, type II [OMIM Phenotype]
- langer-giedion syndrome [MeSH Descriptor]
- langer-giedion syndrome [SNOMED Notion]
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
- trichorhinophalangeal syndrome type II [DO Concept]
DO Cross reference
- trichorhinophalangeal syndrome type II [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [ICD-11 Sub-sub category]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
- Trichorhinophalangeal syndrome, type II [OMIM Phenotype]
- langer-giedion syndrome [MeSH Descriptor]
- langer-giedion syndrome [SNOMED Notion]
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
- trichorhinophalangeal syndrome type II [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 8 [NCIt concept]
disease_mapped_to_gene
- EXT1 Gene [NCIt concept]
disease_may_have_associated_disease
- Chondrosarcoma [NCIt concept]
- Osteochondroma [NCIt concept]
pathogenesis_of_disease_involves_gene
- EXT1 Gene [NCIt concept]
- EXT1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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