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
Frank-Ter Haar syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie phalango-épiphysaire en ailes d'anges	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Heart defect and limb shortening syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short fifth metacarpal insulin resistance syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature due to primary acid labile subunit deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short tarsus with absence of lower eyelashes syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Siegler Brewer Carey syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dacryocystitis and osteopoikilosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
surdité-cécité-hypopigmentation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
dermato-ostéolyse type Kirghize	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dermo-odonto dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphanospondylodysostosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie ectodermique hidrotique type Halal	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de maladie de Hirschsprung-brachydactylie type D	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Holmes Gang syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrolethalus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Galloway Mowat syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Johnson neuroectodermal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofrontofacionasal dysostosis type 2	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'hypertrichose-faciès acromégaloïde	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypomandibular faciocranial dysostosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Juberg Hayward syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Microphthalmia with brain and digit anomaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Puerto Rican infant hypotonia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Scalp, ear, nipple syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Schilbach Rott syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Limb mammary syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isotretinoin embryopathy-like syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Kapur Toriello syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Karsch Neugebauer syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
MEHMO syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculoosteocutaneous syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculotrichodysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Odontoleukodystrophy (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
syndrome oro-facio-digital type 5	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteocraniostenosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Perlman syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ackerman syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypoplasia and coloboma of alar cartilage with telecanthus 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)