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
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie de la dentine	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary skin peeling syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Curry-Hall syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de microduplication 7p22.1	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chromosome Xp22.3 microdeletion syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Beta-D-mannosidosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chromosome Xq27.3q28 duplication syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de duplication Xq12-q13.3	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3q29 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
2p21 microdeletion syndrome without cystinuria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
2p21 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental absence of tooth (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acromesomelic dysplasia Hunter-Thompson type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Symphalangism Cushing type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Rieger syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isomerism of right atrial appendage (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia punctata, X-linked dominant type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
N syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
MARCH syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
TBCK-related intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
SIX homeobox 2-related frontonasal dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Split-foot malformation, mesoaxial polydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Christianson syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked neurodegenerative syndrome Hamel type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe X-linked myotubular myopathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal tight skin contracture syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mohr syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Orofacial-digital syndrome III	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Orofacial-digital syndrome IV	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Colobomatous macrophthalmia with microcornea syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial patent arterial duct	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
FLNA-related X-linked myxomatous valvular dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Gabriele-de Vries syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Non-specific syndromic intellectual disability	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Stromme syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Witteveen Kolk syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sugarman brachydactyly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, brachydactyly, obesity, global developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Basel Vanagaite Smirin Yosef syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Melorheostosis with osteopoikilosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sanjad Sakati 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)