363070008: Developmental hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Developmental hereditary disorder

\Developmental disorder\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	Is a	Hereditary disease	true	Inferred relationship	Some
Developmental hereditary disorder	Is a	Developmental disorder	true	Inferred relationship	Some
Developmental hereditary disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agnathia, holoprosencephaly, situs inversus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Book syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bamforth Lazarus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract and microcornea syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital intrauterine infection-like syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dyschondrosteosis and nephritis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Matthew Wood syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Thickened earlobe with conductive deafness syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Toriello Carey syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Faciocardiorenal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fallot complex with intellectual disability and growth delay syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microlissencephaly micromelia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Native American myopathy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Noonan syndrome-like disorder with loose anagen hair (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly of index finger (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polyvalvular heart disease syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pili torti onychodysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Renier Gabreels Jasper syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Trichothiodystrophy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Talo-patello-scaphoid osteolysis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Stern Lubinsky Durrie syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Split hand, split foot malformation with sensorineural hearing loss syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Grant syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
8q13 microdeletion syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ligase 4 syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Laron syndrome with immunodeficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Kleefstra syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Keutel syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertelorism Teebi type (disorder)	Is a	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
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11829571000172111	trouble développemental héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11829581000172114	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157601000172115	erfelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157611000172117	hereditaire ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)