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
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated optic nerve hypoplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
scaphocéphalie familiale type McGillivray	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
46,XY partial gonadal dysgenesis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Crisponi syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniomicromelic syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
raccourcissement congénital du ligament costo-coracoïde	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Omodysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial male-limited precocious puberty (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly of biphalangeal thumb (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bullous dystrophy macular type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Genochondromatosis type 2 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability Buenos Aires type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Neurofaciodigitorenal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Brooks type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de ptosis-strabisme-pupilles ectopiques	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome d'alopécie circonscrite-polydactylie	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Weaver Williams syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
encéphalopathie épileptique avec démyélinisation cérébrale généralisée	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial isolated congenital asplenia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Hedera type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
déficience intellectuelle liée à l'X type Nascimento	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive amelia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cleft lip retinopathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Coxoauricular syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bone dysplasia lethal Holmgren type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome marfanoïde type de Silva	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de dysplasie ectodermique-surdité neurosensorielle	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia with precocious puberty syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hypoplasia of ulna and split foot syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome marfanoïde-déficience intellectuelle autosomique récessif	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Duplication of eyebrow and syndactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Stimmler syndrome	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated hereditary congenital facial paralysis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Banki	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome de Dandy-Walker-polydactylie postaxiale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Van den Bosch syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked retinal dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
syndrome améloonychohypohidrotique	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
dysplasie cranio-fronto-nasale	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mirror hands and feet co-occurrent with nasal defect (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly of fingers type 8 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 2 (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (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)