dwarfism - CISMeF

Preferred Label : dwarfism;

MeSH definition : A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.;

MeSH synonym : nanism;

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

Details

Origin ID

D004392;

UMLS CUI

C0013336;

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)
- Dwarfism (disorder) [Inactive SNOMED CT concept]
- Severe short stature [HPO term]
Currated CISMeF NLP mapping
- DWARFISM [WHO-ART Preferred Term]
- Dwarfism [PASCAL descriptor]
- Dwarfism [HPO term]
- Dwarfism [MedDRA Preferred Term]
- Dwarfism [NCIt concept]
- Dwarfism NOS [MedDRA LLT]
- Short Stature [NCIt concept]
- Short stature disorder (disorder) [SNOMED CT concept]
- Short stature, not elsewhere classified [ICD-10 Sub-category (who)]
- Short stature, not elsewhere classified [ICD-11 Category]
- Stature short [MedDRA LLT]
- dwarfism [Disease (Nov.)]
- dwarfism [MedlinePlus Topic]
- dwarfism, nos [SNOMED Notion]
HPO term
- Severe short stature [HPO term]
MedlinePlus topic(s)
- dwarfism [MedlinePlus Topic]
Record concept(s)
- dwarfism [MeSH concept]
Related MeSH Supplementary Concept(s)
- Aarskog syndrome [MeSH Supplementary Concept]
- Astley-Kendall syndrome [MeSH Supplementary Concept]
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- Miller-McKusick-Malvaux-Syndrome (3M syndrome) [MeSH Supplementary Concept]
- Oliver-McFarlane syndrome [MeSH Supplementary Concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- Weill-Marchesani-Like syndrome [MeSH Supplementary Concept]
- abuse dwarfism syndrome [MeSH Supplementary Concept]
- acromesomelic dysplasia [MeSH Supplementary Concept]
- acromesomelic dysplasia Campailla-Martinelli type [MeSH Supplementary Concept]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH Supplementary Concept]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]
- amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [MeSH Supplementary Concept]
- anauxetic dysplasia [MeSH Supplementary Concept]
- asthma, short stature, and elevated IgA [MeSH Supplementary Concept]
- asymmetric short stature syndrome [MeSH Supplementary Concept]
- bangstad syndrome [MeSH Supplementary Concept]
- bird headed dwarfism montreal type [MeSH Supplementary Concept]
- boomerang dysplasia [MeSH Supplementary Concept]
- brachydactylous dwarfism mseleni type [MeSH Supplementary Concept]
- brunoni syndrome [MeSH Supplementary Concept]
- bullous dystrophy, hereditary macular type [MeSH Supplementary Concept]
- cantu Sanchez-Corona fragoso syndrome [MeSH Supplementary Concept]
- chondrodysplasia calcificans metaphysealis [MeSH Supplementary Concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- desbuquois syndrome [MeSH Supplementary Concept]
- diastrophic dysplasia [MeSH Supplementary Concept]
- diastrophic dysplasia, broad Bone-Platyspondylic variant [MeSH Supplementary Concept]
- disproportionate short stature with ptosis and valvular heart lesions [MeSH Supplementary Concept]
- dwarfism stiff joint ocular abnormalities [MeSH Supplementary Concept]
- dwarfism tall vertebrae [MeSH Supplementary Concept]
- dwarfism, Low-Birth-Weight type, with unresponsiveness to growth hormone [MeSH Supplementary Concept]
- dwarfism, familial, with muscle spasms [MeSH Supplementary Concept]
- dwarfism, levi type [MeSH Supplementary Concept]
- dwarfism, proportionate, with hip dislocation [MeSH Supplementary Concept]
- dyssegmental dysplasia [MeSH Supplementary Concept]
- dyssegmental dysplasia with glaucoma [MeSH Supplementary Concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- gerodermia osteodysplastica [MeSH Supplementary Concept]
- growth retardation, developmental delay, coarse facies, and early death [MeSH Supplementary Concept]
- hadziselimovic syndrome [MeSH Supplementary Concept]
- hypochondroplasia [MeSH Supplementary Concept]
- ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH Supplementary Concept]
- isolated growth hormone deficiency, type IB [MeSH Supplementary Concept]
- keratosis follicularis dwarfism cerebral atrophy [MeSH Supplementary Concept]
- kniest dysplasia [MeSH Supplementary Concept]
- laplane fontaine lagardere syndrome [MeSH Supplementary Concept]
- megaepiphyseal dwarfism [MeSH Supplementary Concept]
- mental retardation, macrocephaly, short stature and craniofacial dysmorphism [MeSH Supplementary Concept]
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH Supplementary Concept]
- mesomelic dwarfism of hypoplastic tibia and radius type [MeSH Supplementary Concept]
- mesomelic dwarfism reinhardt pfeiffer type [MeSH Supplementary Concept]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dwarfism, type II [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type 3 [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
- microcephalic primordial dwarfism toriello type [MeSH Supplementary Concept]
- mollica pavone antener syndrome [MeSH Supplementary Concept]
- nievergelt syndrome [MeSH Supplementary Concept]
- oculopalatocerebral syndrome [MeSH Supplementary Concept]
- parastremmatic dwarfism [MeSH Supplementary Concept]
- pseudodiastrophic dysplasia [MeSH Supplementary Concept]
- rapadilino syndrome [MeSH Supplementary Concept]
- rommen mueller sybert syndrome [MeSH Supplementary Concept]
- ruvalcaba syndrome [MeSH Supplementary Concept]
- seckel like syndrome type buebel [MeSH Supplementary Concept]
- seckel syndrome 1 [MeSH Supplementary Concept]
- seckel syndrome 2 [MeSH Supplementary Concept]
- seckel syndrome 3 [MeSH Supplementary Concept]
- short Stature-Obesity syndrome [MeSH Supplementary Concept]
- short limb dwarfism al gazali type [MeSH Supplementary Concept]
- short stature and facioauriculothoracic malformations [MeSH Supplementary Concept]
- short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting [MeSH Supplementary Concept]
- singh chhaparwal dhanda syndrome [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, toledo type [MeSH Supplementary Concept]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH Supplementary Concept]
- synovial chondromatosis, familial, with dwarfism [MeSH Supplementary Concept]
- thoraco limb dysplasia rivera type [MeSH Supplementary Concept]
- thoracomelic dysplasia [MeSH Supplementary Concept]
- three M syndrome 2 [MeSH Supplementary Concept]
- tryptophanuria with dwarfism [MeSH Supplementary Concept]
See also
- growth disorders [MeSH Descriptor]
See also (suggested by CISMeF)
- body height [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Constitutional short stature (disorder) [SNOMED CT concept]
- DWARFISM [WHO-ART Preferred Term]
- Dwarf [MedDRA LLT]
- Dwarfism [HPO term]
- Dwarfism [MedDRA Preferred Term]
- Dwarfism [PASCAL descriptor]
- Dwarfism [NCIt concept]
- Dwarfism (disorder) [Inactive SNOMED CT concept]
- Dwarfism NOS [MedDRA LLT]
- Primordial dwarfism (disorder) [SNOMED CT concept]
- Severe short stature [HPO term]
- Short stature disorder (disorder) [SNOMED CT concept]
- Short stature, not elsewhere classified [ICD-11 Category]
- dwarfism [Disease (Nov.)]
- dwarfism [MedlinePlus Topic]
- dwarfism, nos [SNOMED Notion]

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