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
Atelosteogenesis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary progressive muscular dystrophy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alacrima	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited cutis laxa	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Peters plus syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Branchiooculofacial syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
SOX2 anophthalmia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Timothy syndrome type 1 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Myhre syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Renpenning syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
anodontie	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
hyperplasie surrénale congénitale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tarsal-carpal coalition syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3-M syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pitt-Hopkins syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, Strudwick type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocarpotarsal synostosis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
PPM-X syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de persistance des canaux de Müller	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Genitopatellar syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Partington syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
RAPADILINO syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Snyder-Robinson syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hand-foot-genital syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataracts, facial dysmorphism and neuropathy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Arts syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Auriculo-condylar syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
FOXG1 syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de cassure chromosomique de Varsovie	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ophthalmo-acromelic syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Capillary malformation-arteriovenous malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Char syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Megalencephalic leukoencephalopathy with subcortical cysts	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Manitoba oculotrichoanal syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Majeed syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinal detachment and occipital encephalocele	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectopia lentis et pupillae (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Partial agenesis of pancreas (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type B2 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial bicuspid aortic valve (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital Horner syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Optic atrophy, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
2p13.2 microdeletion syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sinoatrial node dysfunction and deafness	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
myopathie à corps d'inclusion héréditaire type 4	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental delay with autism spectrum disorder and gait instability (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
11p15.4 microduplication syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial omphalocele syndrome with facial dysmorphism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tetramelic monodactyly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial tetramelic oligodactyly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Rhizomelic syndrome Urbach type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Edinburgh malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia Christianson Fourie type (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)