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237836003: Short stature disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
356421013 Small stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356423011 Short stature disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626620013 Short stature disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2162284013 SS - Short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2920995012 Short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

295 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 Some
Short stature disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature disorder Interprets Height / growth measure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofaciofrontodigital syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Velofacioskeletal syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Wiedemann Steiner syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, wormian bones, dextrocardia syndrome Is a True Short stature disorder Inferred relationship Some
Oculomaxillofacial dysostosis (disorder) Is a True Short stature disorder Inferred relationship Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
SHOX-related short stature Is a True Short stature disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder) Is a False Short stature disorder Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a False Short stature disorder Inferred relationship Some
Larsen-like osseous dysplasia, short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Short stature disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Short stature disorder Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a False Short stature disorder Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) Is a True Short stature disorder Inferred relationship Some
Severe lateral tibial bowing with short stature Is a True Short stature disorder Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Intellectual disability, short stature, hypertelorism syndrome Is a True Short stature disorder Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a True Short stature disorder Inferred relationship Some
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 (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) 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 (disorder) 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
X-linked intellectual disability Cilliers type (disorder) Is a True Short stature disorder Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a True Short stature disorder Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature disorder due to osteosclerosis (disorder) Is a True Short stature disorder Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency Is a True Short stature disorder Inferred relationship Some
Congenital generalized 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 (disorder) 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
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Severe myopia, generalized 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 (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Short stature disorder Inferred relationship Some
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) 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
Leri-Weill dyschondrosteosis Is a True Short stature disorder Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a True Short stature disorder Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a True Short stature disorder Inferred relationship Some
Autosomal recessive Robinow syndrome Is a True Short stature disorder Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Short stature disorder Inferred relationship Some
Cleidorhizomelic syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Is a True Short stature disorder Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Short stature disorder Inferred relationship Some
AMeD syndrome Is a True Short stature disorder Inferred relationship Some

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