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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 Reference Sets
356421013 Small stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
356423011 Short stature disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
626620013 Short stature disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2162284013 SS - Short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2920995012 Short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2120921000005119 dværgvækst da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

271 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
Konstitutionel kort statur Is a False Short stature disorder Inferred relationship Some
Nutritional stunting Is a True Short stature disorder Inferred relationship Some
Laron-type isolated somatotropin defect Is a True Short stature disorder Inferred relationship Some
Congenital malformation syndromes associated with short stature Is a True Short stature disorder Inferred relationship Some
Primordial dwarfism Is a True Short stature disorder Inferred relationship Some
Dværgvækst, ikke klassificeret andetsteds Is a False Short stature disorder Inferred relationship Some
Anden specificeret dværgvækst, ikke klassificeret andetsteds Is a False Short stature disorder Inferred relationship Some
De Sanctis-Cacchiones syndrom Is a False Short stature disorder Inferred relationship Some
primordial dværgvækst Is a False Short stature disorder Inferred relationship Some
Leprechaunism syndrome Is a True Short stature disorder Inferred relationship Some
objektivt: kort statur Is a False Short stature disorder Inferred relationship Some
Constitutional short stature (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature associated with bone marrow transplant (disorder) Is a True Short stature disorder Inferred relationship Some
Jeune thoracic dystrophy (disorder) Is a False Short stature disorder Inferred relationship Some
Senil dværgvækst Is a False Short stature disorder Inferred relationship Some
Maroteaux-Lamy syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Infantile dwarf Is a True Short stature disorder Inferred relationship Some
Renal dwarfism Is a True Short stature disorder Inferred relationship Some
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Is a False Short stature disorder Inferred relationship Some
Dolichocephalic dwarfism Is a True Short stature disorder Inferred relationship Some
Pituitary dwarfism Is a False Short stature disorder Inferred relationship Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa Is a True Short stature disorder Inferred relationship Some
Asexual dwarfism Is a True Short stature disorder Inferred relationship Some
Rud's syndrome Is a True Short stature disorder Inferred relationship Some
Tryptophanuria with dwarfism Is a True Short stature disorder Inferred relationship Some
Metatropic dysplasia Is a False Short stature disorder Inferred relationship Some
Achondroplasia (disorder) Is a False Short stature disorder Inferred relationship Some
Geleophysic dysplasia Is a True Short stature disorder Inferred relationship Some
Short stature due to radiation therapy (disorder) Is a True Short stature disorder Inferred relationship Some
Hypothyroid dwarfism Is a True Short stature disorder Inferred relationship Some
Thanatophoric dysplasia Is a True Short stature disorder Inferred relationship Some
Rachitic dwarf Is a True Short stature disorder Inferred relationship Some
Mauriac's syndrome Is a True Short stature disorder Inferred relationship Some
Diastrophic dysplasia Is a False Short stature disorder Inferred relationship Some
Myhre syndrome Is a True Short stature disorder Inferred relationship Some
Acromicric dysplasia (disorder) Is a True Short stature disorder Inferred relationship Some
Achondrogenesis Is a False Short stature disorder Inferred relationship Some
Family history of short stature Associated finding True Short stature disorder Inferred relationship Some 1
Short stature co-occurrent and due to endocrine disorder (disorder) Is a True Short stature disorder Inferred relationship Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance (disorder) Is a True Short stature disorder Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Dyssegmental dysplasia with glaucoma syndrome Is a False Short stature disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) Is a True Short stature disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Is a True Short stature disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a True Short stature disorder Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
12q14 microdeletion syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Carpenter Waziri syndrome Is a False Short stature disorder Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
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 (disorder) Is a True Short stature disorder Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a False Short stature disorder Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Hadziselimovic syndrome Is a True Short stature disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) Is a False Short stature disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency (disorder) Is a True Short stature disorder Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a True Short stature disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a False Short stature disorder Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Idiopathic short stature (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Coxoauricular syndrome (disorder) 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 (disorder) 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
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a True Short stature disorder Inferred relationship Some
Short stature of childhood (disorder) 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 (disorder) Is a True Short stature disorder Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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