Langer-Giedion syndrome

ICD-11 code : LD24.80;

Preferred Label : Langer-Giedion syndrome;

ICD-11 definition : Langer-Giedon syndrome or trichorhinophalangeal syndrome type 2 is a chromosomal anomaly syndrome characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.;

ICD-11 synonym : Trichorhinophalangeal syndrome type 2; 8q24.1 deletion syndrome; 8q24.1 microdeletion syndrome; Monosomy 8q24.1;

Détails

Origin ID

315453775;

UMLS CUI

C0023003;

Currated CISMeF NLP mapping
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal Syndrome Type II [NCIt 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]
ICD-10 Mapping
- Other congenital malformations of musculoskeletal system [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Langer Giedion syndrome [Disease (Nov.)]
- Langer-Giedion syndrome [MedDRA Preferred Term]
- Langer-Giedion syndrome [MeSH concept]
- Langer-Giedion syndrome (disorder) [SNOMED CT concept]
- Trichorhinophalangeal Syndrome Type II [NCIt 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]
Validated automatic mappings to NTBT
- Congenital anomaly of musculoskeletal system (disorder) [SNOMED CT concept]
- Other congenital malformations of musculoskeletal system [ICD-10 Sub-category]

Position du mot-clé dans l'(les) arborescence(s) :

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