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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
356421013 Small stature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
356421013 Small stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356422018 Dwarf en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
356423011 Short stature disorder en Synonym (core metadata concept) Active Only initial character 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
356424017 Dwarfism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
626620013 Short stature disorder (disorder) en Fully specified name Active Only initial character 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 Only initial character case insensitive (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
426281000274117 Kleinwuchs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
464251000274113 Zwergwuchs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386221013 insuffisance staturale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
47571000188117 retard staturo-pondéral fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386221013 insuffisance staturale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
47571000188117 retard staturo-pondéral fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
426281000274117 Kleinwuchs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
464251000274113 Zwergwuchs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

295 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature disorder (disorder) Is a Disorder of stature true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature disorder (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature disorder (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofaciofrontodigital syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wiedemann Steiner syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, wormian bones, dextrocardia syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculomaxillofacial dysostosis Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like osseous dysplasia, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nijmegen breakage syndrome-like disorder Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, short stature, hypertelorism syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoleprechaunism syndrome Patterson type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proportionate short stature (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disproportionate short stature (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Emery Nelson syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Subaortic stenosis and short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
21q22.11q22.12 microdeletion syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 3 (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type 5 (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature disorder due to osteosclerosis (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinemia with growth hormone deficiency Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital generalized hypercontractile muscle stiffness syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Psychosocial short stature (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
1p35.2 microdeletion syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
9q33.3q34.11 microdeletion syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
11q22.2q22.3 microdeletion syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
46,XX ovarian dysgenesis, short stature syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leri-Weill dyschondrosteosis Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Kantaputra type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleidorhizomelic syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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