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237836003: Short stature disorder (disorder)


Status: current, Necessary but not sufficient concept 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)

165 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

Inbound Relationships Type Active Source Characteristic Refinability Group
Constitutional short stature 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
Dwarfism NEC Is a False Short stature disorder Inferred relationship Some
Other specified dwarfism NEC Is a False Short stature disorder Inferred relationship Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Is a False Short stature disorder Inferred relationship Some
Dwarfism Is a False Short stature disorder Inferred relationship Some
Leprechaunism syndrome Is a True Short stature disorder Inferred relationship Some
O/E - short stature Is a True 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 Is a False Short stature disorder Inferred relationship Some
Senile dwarfism Is a True Short stature disorder Inferred relationship Some
Maroteaux-Lamy syndrome 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
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a True Short stature disorder Inferred relationship Some
Dolichocephalic dwarfism Is a True Short stature disorder Inferred relationship Some
Pituitary dwarfism Is a True 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 True Short stature disorder Inferred relationship Some
Achondroplasia 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 True 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 True Short stature disorder Inferred relationship Some
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 (disorder) Is a True 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 (disorder) Is a True 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 (disorder) Is a True Short stature disorder Inferred relationship Some
Smith Fineman Myers syndrome (disorder) Is a True 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 True 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 True 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 True 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 (disorder) Is a True 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
Velofacioskeletal syndrome (disorder) Is a True Short stature disorder Inferred relationship Some

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This concept is not in any reference sets

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