363070008: Developmental hereditary disorder (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Developmental hereditary disorder

\trouble du développement\Developmental hereditary disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental hereditary disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental hereditary disorder	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
Developmental hereditary disorder	est un(e) (attribut)	trouble du développement	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microcephalic primordial dwarfism of Toriello type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive distal osteolysis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Phocomelia Schinzel type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Progressive deafness with stapes fixation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Growth delay due to insulin-like growth factor I resistance (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
malformation glomuveineuse	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloocular syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial polydactyly type A (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial polydactyly type B (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly of triphalangeal thumb (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A1 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A4 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A6 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly type 1 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndactylie type 2	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly type 3 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Smith McCort dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocallosal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive primary microcephaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lowry Yong syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Frontofacionasal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Schmitt Gillenwater Kelly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'hypospadias-déficience intellectuelle type Goldblatt	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early onset parkinsonism and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Upper limb defect with eye and ear abnormalities syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mullerian duct and limb anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcornea with corectopia and macular hypoplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with cataract and skeletal anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Shprintzen Goldberg omphalocele syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Steinfeld syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness craniofacial syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tetraamelia with multiple malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant centronuclear myopathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
spectre ostéolyse multicentrique-nodulose-arthropathie	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Joubert syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary cavernous hemangioma of brain (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndromic hypoplasia of orbital border (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Koolen De Vries syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked lissencephaly with abnormal genitalia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Enlarged parietal foramina (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated right ventricular hypoplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant popliteal pterygium syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Atypical Rett syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple congenital exostosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary acantholytic dermatosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Leydig cell agenesis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocephalopolysyndactyly type IV (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Long thumb brachydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482205012	Developmental hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
707591000077118	trouble héréditaire du développement (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
84831000077112	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)