237836003: dwerggroei (aandoening)

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

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

\Finding of general physiological development\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	True	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
syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie	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, advanced bone age, early-onset osteoarthritis syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Psychosocial short stature (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
1p35.2 microdeletion syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
9q33.3q34.11 microdeletion syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
11q22.2q22.3 microdeletion syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
46,XX ovarian dysgenesis, short stature syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Menke Hennekam syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	True	Short stature disorder	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Autosomal recessive Robinow syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
AMeD syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Iatrogenic small stature (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature disorder due to systemic disease (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature disorder due to disorder of body organ (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
syndroom van Wiedemann-Steiner	Is a	False	Short stature disorder	Inferred relationship	Some
Short stature due to emotional deprivation (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some

Start Page 2 of 2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

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
356422018	Dwarf	en	Synonym (core metadata concept)	Inactive	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)	Inactive	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	Entire term case insensitive (core metadata concept)	SNOMED CT core
692181000146117	dwerggroei (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
692191000146115	dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7590221000146119	Dit is een aangeboren stoornis in de ontwikkeling van het kraakbeen, waardoor gebrekkige groei en verkromming van de pijpbeenderen optreedt.	nl	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14193581000146112	Stoornis met te weinig groei waardoor een kleine lichaamslengte kan optreden.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)