237836003: Short stature disorder (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale

\Disease\trouble du développement\anomalie staturale\insuffisance staturale

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
insuffisance staturale	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
insuffisance staturale	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
insuffisance staturale	est un(e) (attribut)	anomalie staturale	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Proportionate short stature	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Disproportionate short stature (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Emery Nelson syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Subaortic stenosis and short stature syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Reunion Island Larsen-like syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
21q22.11q22.12 microdeletion syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
arrêt de croissance par carence nutritionnelle	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature disorder due to osteosclerosis (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Oral-facial-digital syndrome with short stature and brachymesophalangia	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, brachydactyly, obesity, global developmental delay syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Psychosocial short stature (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
1p35.2 microdeletion syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
9q33.3q34.11 microdeletion syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
11q22.2q22.3 microdeletion syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Constitutional short stature (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Laron-type isolated somatotropin defect	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
True dwarfism	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Leprechaunism syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
O/E - short stature	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Constitutional short stature (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature associated with bone marrow transplant (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
dystrophie thoracique asphyxiante	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Senile dwarfism (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Maroteaux-Lamy syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Infantile dwarf	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Renal dwarfism	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Dolichocephalic dwarfism	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
nanisme hypophysaire	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Asexual dwarfism	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Rud's syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Tryptophanuria with dwarfism	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Metatropic dysplasia (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
dysplasie géléophysique	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature due to radiation therapy (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
nanisme thyroïdien	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
dysplasie thanatophore (trouble)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Rachitic dwarf	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Mauriac's syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Primordial dwarfism	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Dwarfism NEC	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Other specified dwarfism NEC	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Myhre syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
dysplasie acromicrique	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
achondrogenèse (trouble)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Family history of short stature	constatation associée (attribut)	True	insuffisance staturale	Inferred relationship	Some	1
Short stature co-occurrent and due to endocrine disorder (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Growth delay due to insulin-like growth factor I resistance (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Dyssegmental dysplasia with glaucoma syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Spondyloepiphyseal dysplasia Reardon type (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Carpenter Waziri syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Sparse hair with short stature and skin anomaly syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Smith Fineman Myers syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Short stature Brussels type (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Spondylometaphyseal dysplasia Schmidt type (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Hadziselimovic syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some

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Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
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
3386221013	insuffisance staturale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
47571000188117	retard staturo-pondéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
549301000241115	insuffisance staturale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
626620013	Short stature disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core