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
Fragile X syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mandibuloacral dysostosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dentin dysplasia, type II	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Multiple lentigines syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Leprechaunism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary vascular fragility	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Benign congenital myopathy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hennekam syndrome	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Drash syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited renal tubule insufficiency with cholestatic jaundice	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Juvenile hyaline fibromatosis	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Laurence-Moon syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital stationary night blindness	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Choanal atresia with radial ray hypoplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cryptophthalmos syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital blue dot cataract	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Axenfeld anomaly	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Total intestinal aganglionosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type I	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Goldenhar syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dysplasia epiphysealis hemimelica	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Metachondromatosis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short rib polydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniodiaphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
hypoplasie dermique en aires	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Gorlin-Chaudhry-Moss syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Oculo-palato-digital syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple pterygium syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypohidrotic X-linked ectodermal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Odontotrichomelic syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary clubbing	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dysostosis multiplex group	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital sutural cataract	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Megacystis, microcolon, hypoperistalsis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pseudodiastrophic dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachyolmia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie acromicrique	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Saldino-Mainzer dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Desbuquois syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Geroderma osteodysplastica	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de François	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Marie Unna syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary splenic hypoplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Floating-Harbour syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Kabuki	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited arthrogryposis	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
incontinentia pigmenti	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Jervell and Lange-Nielsen syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Melnick-Fraser syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital adrenal hypoplasia, X-linked	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome oto-onycho-péronéal	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lenz microphthalmia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital dystrophia brevicollis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blomstrand dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Raine dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Carpotarsal osteochondromatosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Nicolaides-Baraitser syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary mucoepithelial dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocephalopolysyndactyly type II (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary neurocutaneous angiomata (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked dominant chondrodysplasia punctata of Happle (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Chudley Lowry Hoar syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bilateral microtia with deafness and cleft palate syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blepharocheilodontic syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Branchiogenic deafness syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated anterior cervical hypertrichosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial median cleft of upper and lower lip (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie acromésomélique type Maroteaux	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Abruzzo Erickson syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ablepharon macrostomia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 7 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 6 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 5 (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)