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
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Book syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ballard syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bamforth Lazarus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract and microcornea syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Catel Manzke syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de pseudo-infection intra-utérine congénitale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dyschondrosteosis and nephritis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Matthew Wood syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thickened earlobe with conductive deafness syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Toriello Carey syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome tumoral hamartomateux lié à PTEN	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Endocrine-cerebro-osteodysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Faciocardiorenal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microlissencephaly micromelia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de lipomes naso-palpébraux-colobome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Native American myopathy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
ataxie cérébelleuse non progressive avec déficience intellectuelle	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Noonan syndrome-like disorder with loose anagen hair (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly of index finger (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de la maladie cardiaque polyvalvulaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pierson syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pili torti onychodysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Renier Gabreels Jasper syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Trichothiodystrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thymic, renal, anal, lung dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Talo-patello-scaphoid osteolysis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Stern Lubinsky Durrie syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Split hand, split foot malformation with sensorineural hearing loss syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Grant syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
8q13 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ligase 4 syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Laron syndrome with immunodeficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Kleefstra syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Keutel syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertelorism Teebi type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles 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)