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237836003: Short stature disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of general physiological development\Disorder of stature\Short stature disorder

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder

\Disease\Developmental disorder\Disorder of stature\Short stature disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Craniofaciofrontodigital syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	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 (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
SHOX-related short stature	Is a	False	Short stature disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	Is a	False	Short stature disorder	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	False	Short stature disorder	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome (disorder)	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 (disorder)	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 (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 (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	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 (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Proportionate short stature	Is a	True	Short stature disorder	Inferred relationship	Some
Disproportionate short stature (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Emery Nelson syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Subaortic stenosis and short stature syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Reunion Island Larsen-liknande syndrom	Is a	False	Short stature disorder	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
21q22.11q22.12 microdeletion syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature disorder due to osteosclerosis (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	Is a	True	Short stature disorder	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Oral-facial-digital syndrome with short stature and brachymesophalangia	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature for age due to Turner syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature for age due to Noonan 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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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
3849641000052119	kortvuxenhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)