langer-giedion syndrome

Preferred Label : langer-giedion syndrome;

MeSH definition : Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).;

MeSH synonym : syndrome, giedion-langer; giedion langer syndrome; syndrome, langer-giedion; giedion-langer syndrome; trichorhinophalangeal syndrome with exostoses; trichorhinophalangeal syndrome type ii; acrodysplasia v; langer giedion syndrome; trichorhinophalangeal syndrome, type II; acrodysplasia vs; trichorhinophalangeal syndrome type 2; Tricho-Rhino-Phalangeal syndrome type II; tricho rhino phalangeal syndrome type II; TRPSII;

CISMeF synonym : Langer-Giedion; langer-giedion's syndrome;

MeSH annotation : an osteochondrodysplasia;

Wikipedia link : https://en.wikipedia.org/wiki/Langer-giedion syndrome;

Details

Origin ID

D015826;

UMLS CUI

C0023003;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
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 (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 [SNOMED Notion]
- trichorhinophalangeal syndrome type II [DO Concept]
DO Cross reference
- trichorhinophalangeal syndrome type II [DO Concept]
Manual NTBT mappings (CISMeF)
- Acromelic dysplasia [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic hair shaft abnormality [ORDO Disease]
ORDO relation(s)
- Trichorhinophalangeal syndrome type 2 [ORDO Disease]
Record concept(s)
- Langer-Giedion syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Trichorhinophalangeal Syndrome, Type I [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Acrodysostosis [ORDO Disease]
- Trichorhinophalangeal syndrome, type I [OMIM Phenotype]
- Trichorhinophalangeal syndrome, type III [OMIM Phenotype]
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 [ICD-11 Sub-sub category]
- 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 [SNOMED Notion]
- trichorhinophalangeal syndrome 2 [Disease (Nov.)]
- trichorhinophalangeal syndrome type II [DO Concept]

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