Short stature disorder

Code	`237836003`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20251001

122988200311q22.2q22.3 microdeletion syndrome disorder

71904600512q14 microdeletion syndrome disorder

12288440021p35.2 microdeletion syndrome disorder

78717100621q22.11q22.12 microdeletion syndrome disorder

123734500246,XX ovarian dysgenesis, short stature syndrome disorder

12288860089q33.3q34.11 microdeletion syndrome disorder

1332385000AMeD syndrome disorder

254090007Acromicric dysplasia disorder

7530009Asexual dwarfism disorder

926323003Asymmetric short stature disorder

773769008Ataxia, photosensitivity, short stature syndrome disorder

718577005Atkin Flaitz syndrome disorder

890237005Autosomal recessive Robinow syndrome disorder

782782004Autosomal recessive spondylometaphyseal dysplasia Megarbane type disorder

1251499005B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome disorder

717887003Biemond syndrome type 2 disorder

717914000Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome disorder

782914000Brachydactyly, short stature, retinitis pigmentosa syndrome disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

720574003Brachytelephalangy, facial dysmorphism, Kallmann syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

726621009Caudal appendage deafness syndrome disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

719466009Cleft palate with short stature and vertebral anomaly syndrome disorder

763130006Cleft palate, large ears, small head syndrome disorder

719471002Cleidorhizomelic syndrome disorder

15182000Coffin-Lowry syndrome disorder

1174000008Congenital generalised hypercontractile muscle stiffness syndrome disorder

205808005Congenital malformation syndromes associated with short stature disorder

422065006Constitutional short stature disorder

732248005Coxoauricular syndrome disorder

1217229007Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome disorder

763320005Craniofaciofrontodigital syndrome disorder

725100001Craniolenticulosutural dysplasia disorder

722381004Crome syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

721089006Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome disorder

58561002Diastrophic dysplasia disorder

772086000Disproportionate short stature disorder

897570002Distal arthrogryposis type 3 disorder

39401000Dolichocephalic dwarfism disorder

239025003Dwarfism, alopecia, pseudoanodontia, cutis laxa disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

773768000Emery Nelson syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

312214005Floating-Harbor syndrome disorder

721843003GAPO syndrome disorder

722450007GEMSS syndrome disorder

716024001GMS syndrome disorder

28557005Geleophysic dysplasia disorder

715625007Growth delay due to insulin-like growth factor I resistance None

719395001Hadziselimovic syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

722453009Hennekam Beemer syndrome disorder

721841001Hypogonadism with mitral valve prolapse and intellectual disability syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

216693007Hypothyroid dwarfism disorder

733097003Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome disorder

783551005Ichthyosis, short stature, brachydactyly, microspherophakia syndrome disorder

133221000119100Idiopathic short stature disorder

21265004Infantile dwarf disorder

773552008Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome disorder

1208746001Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

771077007Intellectual disability, short stature, hypertelorism syndrome disorder

1177178005Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome disorder

1197592001Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome disorder

723830005Keratosis follicularis, dwarfism, cerebral atrophy syndrome disorder

724179008Laron syndrome with immunodeficiency disorder

38196001Laron-type isolated somatotropin defect disorder

764956007Larsen-like osseous dysplasia, short stature syndrome disorder

111307005Leprechaunism syndrome disorder

17818006Leri-Weill dyschondrosteosis disorder

1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder

722033000Macrocephaly, short stature, paraplegia syndrome disorder

69463008Maroteaux-Lamy syndrome disorder

80660001Mauriac's syndrome disorder

1260095004Menke Hennekam syndrome disorder

719397009Mesomelic dysplasia Kantaputra type disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

771074000Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

699316006Myhre syndrome disorder

764995008Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome disorder

766753005Nijmegen breakage syndrome-like disorder disorder

302869005Nutritional stunting disorder

1255268002Oculocerebrodental syndrome disorder

763830009Oculomaxillofacial dysostosis disorder

719944006Oliver McFarlane syndrome disorder

1177179002Oral-facial-digital syndrome with short stature and brachymesophalangia disorder

1003379004Osteogenesis imperfecta type 5 disorder

763863002Pectus excavatum, macrocephaly, dysplastic nails syndrome disorder

718717004Primary immunodeficiency syndrome due to p14 deficiency disorder

782755007Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome disorder

237837007Primordial dwarfism disorder

772085001Proportionate short stature disorder

771262009Pseudoleprechaunism syndrome Patterson type disorder

1217076005Psychosocial short stature disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

13109008Rachitic dwarf disorder

719162001Radioulnar synostosis with microcephaly and scoliosis syndrome disorder

715472000Reinhardt Pfeiffer mesomelic dysplasia disorder

36914006Renal dwarfism disorder

1220597000Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome disorder

715505002Rhizomelic dysplasia Patterson Lowry type disorder

2355008Rud's syndrome disorder

763868006SHOX-related short stature disorder

773419004Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome disorder

766819001Severe lateral tibial bowing with short stature disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

719213009Short stature Brussels type disorder

429362002Short stature associated with bone marrow transplant disorder

368331000119100Short stature co-occurrent and due to endocrine disorder disorder

1153392009Short stature disorder due to osteosclerosis disorder

721074002Short stature due to primary acid labile subunit deficiency disorder

431038007Short stature due to radiation therapy disorder

726734001Short stature locking fingers syndrome disorder

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

1197586007Short stature, advanced bone age, early-onset osteoarthritis syndrome disorder

774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

1237512003Short stature, developmental delay, congenital heart defect syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

1237618009Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome disorder

721072003Short stature, pituitary and cerebellar defect and small sella turcica syndrome disorder

1284851009Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome disorder

726672000Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome disorder

763631006Short stature, wormian bones, dextrocardia syndrome disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

718765003Spondyloepiphyseal dysplasia Cantu type disorder

718764004Spondyloepiphyseal dysplasia Reardon type disorder

1197589000Steel syndrome disorder

733072002Stimmler syndrome disorder

783096008Subaortic stenosis and short stature syndrome disorder

783003009Thoracomelic dysplasia disorder

771182002Thumb deformity, alopecia, pigmentation anomaly syndrome disorder

733066002Trigonocephaly, short stature, developmental delay syndrome disorder

12045002Tryptophanuria with dwarfism disorder

716334004Urban Rogers Meyer syndrome disorder

763616002Velofacioskeletal syndrome disorder

715988005Wellesley Carman French syndrome disorder

763618001Wiedemann Steiner syndrome disorder

234533006X-linked agammaglobulinaemia with growth hormone deficiency disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

719013004X-linked intellectual disability Cilliers type disorder

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

Parents (2)

Children (151)