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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
Sparse hair with short stature and skin anomaly syndrome Is a False Short stature disorder Inferred relationship Some
Smith Fineman Myers syndrome Is a False Short stature disorder Inferred relationship Some
Short stature Brussels type Is a True Short stature disorder Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type Is a False Short stature disorder Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a True Short stature disorder Inferred relationship Some
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Short stature disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome Is a True Short stature disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a False Short stature disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Short stature disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Short stature disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Short stature disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Short stature disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Short stature disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Short stature disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome Is a True Short stature disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a True Short stature disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency Is a True Short stature disorder Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a True Short stature disorder Inferred relationship Some
Biemond syndrome type 2 Is a True Short stature disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Lowry Wood syndrome Is a False Short stature disorder Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome Is a True Short stature disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Short stature disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Short stature disorder Inferred relationship Some
Hennekam Beemer syndrome Is a True Short stature disorder Inferred relationship Some
GAPO syndrome Is a True Short stature disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Short stature disorder Inferred relationship Some
Idiopathic short stature Is a True Short stature disorder Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a True Short stature disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Short stature disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Short stature disorder Inferred relationship Some
Laron syndrome with immunodeficiency Is a True Short stature disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Short stature disorder Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Short stature disorder Inferred relationship Some
Caudal appendage deafness syndrome Is a True Short stature disorder Inferred relationship Some
Pfeiffer Palm Teller syndrome Is a True Short stature disorder Inferred relationship Some
Eng Strom syndrome Is a True Short stature disorder Inferred relationship Some
Coxoauricular syndrome Is a True Short stature disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Short stature disorder Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome Is a True Short stature disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Short stature disorder Inferred relationship Some
Stimmler syndrome Is a True Short stature disorder Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Short stature disorder Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Is a True Short stature disorder Inferred relationship Some
Short stature of childhood Is a True Short stature disorder Inferred relationship Some
Floating-Harbour syndrome Is a True Short stature disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Short stature disorder Inferred relationship Some
Craniofaciofrontodigital syndrome Is a True Short stature disorder Inferred relationship Some
Velofacioskeletal syndrome 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 Is a True Short stature disorder Inferred relationship Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Short stature disorder Inferred relationship Some
Short stature homeobox related short stature Is a False Short stature disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Short stature disorder Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a False Short stature disorder Inferred relationship Some
Larsen-like osseous dysplasia, short stature syndrome 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 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 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 Is a True Short stature disorder Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Short stature disorder Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 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 Is a True Short stature disorder Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type Is a True Short stature disorder Inferred relationship Some

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