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
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie pilo-dentaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ptosis and vocal cord paralysis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Teebi Shaltout syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Grubben, De Cock, Borghgraef syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital myopathy with myasthenic-like onset (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebrofacioarticular syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Wiedemann Steiner syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de mèches blanches et anomalies multiples	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic ataxia with congenital miosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial vesicoureteral reflux (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
adermatoglyphie congénitale isolée	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dislocation of hip and facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Keipert syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Malan overgrowth syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Agenesis of corpus callosum and abnormal genitalia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome oculo-auriculaire type Schorderet	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oro-facial digital syndrome type 1 (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Oro-facial digital syndrome type 14	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Marfan néonatal	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Renal hepatic pancreatic dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial isolated trichomegaly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Branchiootic syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital myopathy with internal nuclei and atypical cores (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
King Denborough syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial thoracic aortic aneurysm and aortic dissection	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial generalised lentiginosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie dyssegmentaire type Silverman-Handmaker	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hartsfield syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked cleft palate and ankyloglossia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome radio-rénal	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Trichoodontoonychial dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature due to growth hormone secretagogue receptor deficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie spondylo-épimétaphysaire avec luxations multiples	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diencephalic mesencephalic junction dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de dysplasie ectodermique-syndactylie	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polymicrogyria with optic nerve hypoplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
foramen pariétal avechypoplasie claviculaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Jawad	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autism spectrum disorder due to AUTS2 deficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, craniofacioskeletal syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thakker Donnai syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrosomia, microphthalmia, cleft palate syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie spondylo-épimétaphysaire type Geneviève	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Zechi Ceide syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
CK syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis and dental anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive frontotemporal pachygyria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Roifman syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	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)