campomelic dysplasia

Preferred Label : campomelic dysplasia;

MeSH definition : A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.;

MeSH synonym : dysplasia, campomelic; dysplasias, campomelic; campomelic dysplasias; camptomelic dysplasia; camptomelic dysplasias; dysplasia, camptomelic; dysplasias, camptomelic; campomelic syndrome; campomelic dwarfism; Campomelic Syndromes; Syndrome, Campomelic; Syndromes, Campomelic; Campomelic Dwarfisms; Dwarfism, Campomelic; Dwarfisms, Campomelic; Cmpd1 Sra1; Cmpd1 Sra1s; Sra1, Cmpd1; Sra1s, Cmpd1;

CISMeF acronym : Cmpd1/Sra1;

MeSH hyponym : acampomelic campomelic dysplasia; Acampomelic Campomelic Dysplasias; Campomelic Dysplasia, Acampomelic; Campomelic Dysplasias, Acampomelic; Dysplasia, Acampomelic Campomelic; Dysplasias, Acampomelic Campomelic;

Détails

Origin ID

D055036;

UMLS CUI

C1861922;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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]
Automatic exact mappings (from CISMeF team)
- Campomelic dysplasia [ICD-11 More detail]
- Campomelic syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Campomelic Dysplasia [NCIt concept]
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic dysplasia [OMIM Phenotype]
- Campomelic dysplasia [ORDO Disease]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- camptomelic dysplasia [SNOMED Notion]
DO Cross reference
- campomelic dysplasia [DO Concept]
Has phenotype(s) (HPO)
- Absent sternal mineralization [HPO term]
- Failure to thrive in survivors [HPO term]
- Flattened nasal bridge [HPO term]
- Short limb dwarfism [HPO term]
Manual NTBT mappings (CISMeF)
- Campomelic dysplasia and related disorders [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Syndrome with 46,XY disorder of sex development [ORDO Disease]
MeSH Descriptor(s) used for indexing
- SOX9 transcription factor [MeSH Descriptor]
ORDO relation(s)
- Campomelic dysplasia [ORDO Disease]
Record concept(s)
- acampomelic campomelic dysplasia [MeSH concept]
- campomelic dysplasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- campomelia cumming type [MeSH Supplementary Concept]
- campomelic dysplasia with autosomal sex reversal [MeSH Supplementary Concept]
- camptomelic syndrome long limb type [MeSH Supplementary Concept]
- dyssegmental dysplasia, Rolland-Desbuquois type [MeSH Supplementary Concept]
- fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [MeSH Supplementary Concept]
- pierre robin sequence with pectus excavatum and rib and scapular anomalies [MeSH Supplementary Concept]
See also
- pierre robin syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Campomelic Dysplasia [NCIt concept]
- Campomelic dysplasia [ORDO Disease]
- Campomelic dysplasia [OMIM Phenotype]
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic syndrome [MedDRA Preferred Term]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- camptomelic dysplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Acampomelic Campomelic Dysplasia [NCIt concept]

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