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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
Constitutional short stature Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nutritional stunting (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Laron-type isolated somatotropin defect Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primordial dwarfism Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dwarfism NEC Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Other specified dwarfism NEC Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dwarfism Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leprechaunism syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
On examination - short stature Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional short stature Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature associated with bone marrow transplant (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Senile dwarfism Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maroteaux-Lamy syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile dwarf Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal dwarfism Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dolichocephalic dwarfism (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pituitary dwarfism Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dwarfism, alopecia, pseudoanodontia, cutis laxa Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Asexual dwarfism Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rud's syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tryptophanuria with dwarfism Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metatropic dysplasia (disorder) Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Geleophysic dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature due to radiation therapy (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroid dwarfism Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rachitic dwarf Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mauriac's syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diastrophic dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myhre syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acromicric dysplasia Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of short stature Associated finding True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature co-occurrent and due to endocrine disorder (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
GMS syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor I resistance (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia with glaucoma syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Cantu type Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
12q14 microdeletion syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter Waziri syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sparse hair with short stature and skin anomaly syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Smith Fineman Myers syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature due to primary acid labile subunit deficiency (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic short stature Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Laron syndrome with immunodeficiency (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniolenticulosutural dysplasia (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature locking fingers syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coxoauricular syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature of childhood (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Floating-Harbor syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder) Is a True Short stature disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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