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
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Carney complex (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Summitt syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie ectodermique tricho-odonto-onychiale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome rein-colobome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Nance-Horan syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked periventricular heterotopia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tetra-amelia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Desmosterolosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bowen-Conradi syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'insensibilité partielle aux androgènes	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability and progressive spastic paraplegia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal polymalformative syndrome Boissel type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant prognathism of mandible (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant primary microcephaly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 9 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 10 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Multisystemic smooth muscle dysfunction syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
High bone mass osteogenesis imperfecta	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked osteoporosis with fractures	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked calvarial hyperostosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Xp22.13p22.2 duplication syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Occipital pachygyria and polymicrogyria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary cryohydrocytosis with reduced stomatin	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Extensor tendons of finger anomalies (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Richieri Costa-da Silva syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Subaortic stenosis and short stature syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
RIDDLE syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Holzgreve syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary isolated aplastic anemia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Reunion Island Larsen-like syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability due to GRIA3 mutations	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Antecubital pterygium syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aneurysm osteoarthritis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Muenke syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bifid nose (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteopetrosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
ichtyose congénitale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Albinism	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Atelosteogenesis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some

Start Previous Page 9 of 14 Next End

Reference Sets

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

Back to Start

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)