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237836003: Short stature disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2162284013 SS - Short stature en Synonym Active Case sensitive SNOMED CT core
2920995012 Short stature en Synonym Active Case insensitive SNOMED CT core
356421013 Small stature en Synonym Active Case insensitive SNOMED CT core
356422018 Dwarf en Synonym Inactive Initial character case insensitive SNOMED CT core
356423011 Short stature disorder en Synonym Active Case insensitive SNOMED CT core
356424017 Dwarfism en Synonym Inactive Initial character case insensitive SNOMED CT core
626620013 Short stature disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

303 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Short stature disorder Interprets Height / growth measure true Inferred relationship Some 2
Short stature disorder Is a Disorder of stature true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Proportionate short stature Is a True Short stature disorder Inferred relationship Some
Disproportionate short stature Is a True Short stature disorder Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Short stature disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Short stature disorder Inferred relationship Some
Emery Nelson syndrome Is a True Short stature disorder Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Short stature disorder Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Short stature disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Short stature disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a True Short stature disorder Inferred relationship Some
Thoracomelic dysplasia Is a True Short stature disorder Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Short stature disorder Inferred relationship Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Short stature disorder Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Short stature disorder Inferred relationship Some
Nutritional stunting Is a True Short stature disorder Inferred relationship Some
X-linked intellectual disability Cilliers type Is a True Short stature disorder Inferred relationship Some
Distal arthrogryposis type 3 Is a True Short stature disorder Inferred relationship Some
Osteogenesis imperfecta type 5 Is a True Short stature disorder Inferred relationship Some
Short stature disorder due to osteosclerosis Is a True Short stature disorder Inferred relationship Some
X-linked agammaglobulinaemia with growth hormone deficiency Is a True Short stature disorder Inferred relationship Some
Congenital generalised hypercontractile muscle stiffness syndrome Is a True Short stature disorder Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a True Short stature disorder Inferred relationship Some
Oral-facial-digital syndrome with short stature and brachymesophalangia Is a True Short stature disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Short stature disorder Inferred relationship Some
Steel syndrome Is a True Short stature disorder Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Short stature disorder Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Some
Psychosocial short stature Is a True Short stature disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Short stature disorder Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Short stature disorder Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Short stature disorder Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Short stature disorder Inferred relationship Some
1p35.2 microdeletion syndrome Is a True Short stature disorder Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a True Short stature disorder Inferred relationship Some
11q22.2q22.3 microdeletion syndrome Is a True Short stature disorder Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Short stature disorder Inferred relationship Some
Coffin-Lowry syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Short stature disorder Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency Is a True Short stature disorder Inferred relationship Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Is a True Short stature disorder Inferred relationship Some
Oculocerebrodental syndrome Is a True Short stature disorder Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True Short stature disorder Inferred relationship Some
Menke Hennekam syndrome Is a True Short stature disorder Inferred relationship Some
Constitutional short stature Is a False Short stature disorder Inferred relationship Some
Laron-type isolated somatotropin defect Is a True Short stature disorder Inferred relationship Some
De Sanctis-Cacchione syndrome Is a False Short stature disorder Inferred relationship Some
True dwarfism Is a False Short stature disorder Inferred relationship Some
Leprechaunism syndrome Is a True Short stature disorder Inferred relationship Some
On examination - short stature Is a False Short stature disorder Inferred relationship Some
Constitutional short stature Is a True Short stature disorder Inferred relationship Some
Short stature associated with bone marrow transplant Is a True Short stature disorder Inferred relationship Some
Jeune thoracic dystrophy Is a False Short stature disorder Inferred relationship Some
Senile dwarfism Is a False Short stature disorder Inferred relationship Some
Maroteaux-Lamy syndrome Is a True Short stature disorder Inferred relationship Some
Infantile dwarf Is a True Short stature disorder Inferred relationship Some
Renal dwarfism Is a True Short stature disorder Inferred relationship Some
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Is a False Short stature disorder Inferred relationship Some
Dolichocephalic dwarfism Is a True Short stature disorder Inferred relationship Some
Pituitary dwarfism Is a False Short stature disorder Inferred relationship Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa Is a True Short stature disorder Inferred relationship Some
Asexual dwarfism Is a True Short stature disorder Inferred relationship Some
Rud's syndrome Is a True Short stature disorder Inferred relationship Some
Tryptophanuria with dwarfism Is a True Short stature disorder Inferred relationship Some
Metatropic dysplasia Is a False Short stature disorder Inferred relationship Some
Achondroplasia Is a False Short stature disorder Inferred relationship Some
Geleophysic dysplasia Is a True Short stature disorder Inferred relationship Some
Short stature due to radiation therapy Is a True Short stature disorder Inferred relationship Some
Hypothyroid dwarfism Is a True Short stature disorder Inferred relationship Some
Thanatophoric dysplasia Is a True Short stature disorder Inferred relationship Some
Rachitic dwarf Is a True Short stature disorder Inferred relationship Some
Mauriac's syndrome Is a True Short stature disorder Inferred relationship Some
Diastrophic dysplasia Is a False Short stature disorder Inferred relationship Some
Congenital malformation syndromes associated with short stature Is a True Short stature disorder Inferred relationship Some
Primordial dwarfism Is a True Short stature disorder Inferred relationship Some
Dwarfism NEC Is a False Short stature disorder Inferred relationship Some
Other specified dwarfism NEC Is a False Short stature disorder Inferred relationship Some
Myhre syndrome Is a True Short stature disorder Inferred relationship Some
Acromicric dysplasia Is a True Short stature disorder Inferred relationship Some
Achondrogenesis Is a False Short stature disorder Inferred relationship Some
Family history of short stature Associated finding True Short stature disorder Inferred relationship Some 1
Short stature co-occurrent and due to endocrine disorder Is a True Short stature disorder Inferred relationship Some
GMS syndrome Is a True Short stature disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Short stature disorder Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance Is a True Short stature disorder Inferred relationship Some
Wellesley Carman French syndrome Is a True Short stature disorder Inferred relationship Some
Dyssegmental dysplasia with glaucoma syndrome Is a False Short stature disorder Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a True Short stature disorder Inferred relationship Some
Urban Rogers Meyer syndrome Is a True Short stature disorder Inferred relationship Some
Atkin Flaitz syndrome Is a True Short stature disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency Is a True Short stature disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type Is a True Short stature disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Cantu type Is a True Short stature disorder Inferred relationship Some
12q14 microdeletion syndrome Is a True Short stature disorder Inferred relationship Some
Carpenter Waziri syndrome Is a False Short stature disorder Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Short stature disorder Inferred relationship Some
Sparse hair with short stature and skin anomaly syndrome Is a False Short stature disorder Inferred relationship Some

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