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
Cardiospondylocarpofacial syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature due to primary acid labile subunit deficiency (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Idiopathic short stature (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Laron syndrome with immunodeficiency (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Caudal appendage deafness syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Coxoauricular syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Stimmler syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature of childhood (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Floating-Harbour syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Craniofaciofrontodigital syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Wiedemann Steiner syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Short stature, wormian bones, dextrocardia syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Oculomaxillofacial dysostosis (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
SHOX-related short stature	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
Larsen-like osseous dysplasia, short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
dysplasie dyssegmentaire type Silverman-Handmaker	est un(e) (attribut)	False	insuffisance staturale	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Severe lateral tibial bowing with short stature	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	est un(e) (attribut)	True	insuffisance staturale	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type (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