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237836003: Short stature disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

303 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature disorder Is a Disorder of stature true Inferred relationship Existential restriction modifier
Short stature disorder Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Short stature disorder Interprets Height / growth measure true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofaciofrontodigital syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Velofacioskeletal syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Wiedemann Steiner syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, wormian bones, dextrocardia syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Oculomaxillofacial dysostosis Is a True Short stature disorder Inferred relationship Existential restriction modifier
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature homeobox related short stature Is a False Short stature disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Short stature disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a False Short stature disorder Inferred relationship Existential restriction modifier
Larsen-like osseous dysplasia, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a False Short stature disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Nijmegen breakage syndrome-like disorder Is a True Short stature disorder Inferred relationship Existential restriction modifier
Severe lateral tibial bowing with short stature Is a True Short stature disorder Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intellectual disability, short stature, hypertelorism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Pseudoleprechaunism syndrome Patterson type Is a True Short stature disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Proportionate short stature Is a True Short stature disorder Inferred relationship Existential restriction modifier
Disproportionate short stature Is a True Short stature disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Emery Nelson syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Subaortic stenosis and short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Thoracomelic dysplasia Is a True Short stature disorder Inferred relationship Existential restriction modifier
Reunion Island Larsen-like syndrome Is a False Short stature disorder Inferred relationship Existential restriction modifier
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
21q22.11q22.12 microdeletion syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Cilliers type Is a True Short stature disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis type 3 Is a True Short stature disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type 5 Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature disorder due to osteosclerosis Is a True Short stature disorder Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia with growth hormone deficiency Is a True Short stature disorder Inferred relationship Existential restriction modifier
Congenital generalized hypercontractile muscle stiffness syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Oral-facial-digital syndrome with short stature and brachymesophalangia Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Psychosocial short stature Is a True Short stature disorder Inferred relationship Existential restriction modifier
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
1p35.2 microdeletion syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
9q33.3q34.11 microdeletion syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
11q22.2q22.3 microdeletion syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
46,XX ovarian dysgenesis, short stature syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Coffin-Lowry syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Short stature disorder Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, short stature, overweight syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Menke Hennekam syndrome Is a True Short stature disorder Inferred relationship Existential restriction modifier
Dwarfism NEC Is a False Short stature disorder Inferred relationship Existential restriction modifier
Other specified dwarfism NEC Is a False Short stature disorder Inferred relationship Existential restriction modifier
Proportionate short stature Is a False Short stature disorder Inferred relationship Existential restriction modifier
Disproportionate short stature Is a False Short stature disorder Inferred relationship Existential restriction modifier

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