achondroplasia

Preferred Label : achondroplasia;

MeSH definition : An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001);

MeSH synonym : achondroplasias;

Related MeSH term : achondroplasia, severe, with developmental delay and acanthosis nigricans; Skeleton-Skin-Brain Syndrome; Skeleton Skin Brain Syndrome; Skeleton-Skin-Brain Syndromes; Syndrome, Skeleton-Skin-Brain; Syndromes, Skeleton-Skin-Brain; Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN; SADDANs; SADDAN Dysplasia; Dysplasia, SADDAN; Dysplasias, SADDAN; SADDAN Dysplasias;

Wikipedia link : https://en.wikipedia.org/wiki/Achondroplasia;

Details

Origin ID

D000130;

UMLS CUI

C0001080;

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)
- Achondroplasia, severe, with developmental delay and acanthosis nigricans [OMIM Phenotype]
- Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) [SNOMED CT concept]
- Severe achondroplasia with developmental delay and acanthosis nigricans [MedDRA LLT]
- Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) [SNOMED CT concept]
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [ORDO Disease]
- brachycephalic dwarfism [SNOMED Notion]
- congenital syphilitic epiphysitis [SNOMED Notion]
- dwarfism [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [NCIt concept]
- Achondroplasia [OMIM Phenotype]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia [ORDO Disease]
- Achondroplasia [MedDRA LLT]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]
- achondroplasia [SNOMED Notion]
- achondroplasia [Radlex concept]
DO Cross reference
- SADDAN [DO Concept]
- achondroplasia [DO Concept]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- FGFR3-related chondrodysplasia [ORDO Disease]
MedlinePlus topic(s)
- dwarfism [MedlinePlus Topic]
ORDO relation(s)
- Achondroplasia [ORDO Disease]
Record concept(s)
- achondroplasia [MeSH concept]
- achondroplasia, severe, with developmental delay and acanthosis nigricans [MeSH concept]
Related MeSH Supplementary Concept(s)
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- achondrogenesis type 1A [MeSH Supplementary Concept]
- achondrogenesis type 1B [MeSH Supplementary Concept]
- achondrogenesis type 2 [MeSH Supplementary Concept]
- achondrogenesis, type 3 [MeSH Supplementary Concept]
- achondrogenesis, type 4 [MeSH Supplementary Concept]
- achondroplasia and swiss type agammaglobulinemia [MeSH Supplementary Concept]
- achondroplastic dwarfism [MeSH Supplementary Concept]
- baby rattle pelvic dysplasia [MeSH Supplementary Concept]
- dyssegmental dysplasia, Rolland-Desbuquois type [MeSH Supplementary Concept]
- pseudoachondroplasia [MeSH Supplementary Concept]
- pseudoachondroplastic dysplasia 2 [MeSH Supplementary Concept]
SNOMED CT : localisation
- epiphyses [MeSH Descriptor]
See also
- receptor, fibroblast growth factor, type 3 [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondroplasia [ORDO Disease]
- Achondroplasia [OMIM Phenotype]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia [NCIt concept]
- Achondroplasia [MedDRA LLT]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [Radlex concept]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]
- achondroplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- SADDAN [DO Concept]

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