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
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial dysplasia osteopenia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial infantile gigantism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de cataracte congénitale-surdité-retard de développement sévère	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Distal Xq28 microduplication syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Genitopalatocardiac syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Emery Nelson syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
déficience intellectuelle non syndromique rare	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Peripheral dysostosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de dermatite sévère-allergies multiples-cachexie métabolique	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Trichorhinophalangeal syndrome type 1 and 3	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mullerian aplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant familial woolly hair	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive familial woolly hair	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macular corneal dystrophy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Erythrokeratodermia variabilis	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type I	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type II	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type IV (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blue cone monochromatism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Woodhouse Sakati syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Periventricular nodular heterotopia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial hypospadias of penis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive asexual dwarfism	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked asexual dwarfism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary camptodactyly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Antley-Bixler syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Coralliform cataract (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocardiofacial syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bilateral frontoparietal polymicrogyria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
macrocéphalie, malformation capillaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type D (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A3 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic liver disease	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Jackson-Weiss syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Saethre-Chotzen syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial spinal neurofibromatosis	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Type 3 lissencephaly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Genochondromatosis type 1 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked congenital generalized hypertrichosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Wrinkly skin syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fibrous skin tumour of tuberous sclerosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pulmonary tuberous sclerosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ash leaf spot, tuberous sclerosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
17q11 deletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital epithelial dysplasia of intestine (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Amish lethal microcephaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	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)