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363070008: Developmental hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482205012 Developmental hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2062 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Existential restriction modifier
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sanjad Sakati syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive dysgenesis of anterior segment of eye Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial cavitary optic disc anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency, enteropathy spectrum Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Central core disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema, posterior choanal atresia syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism type II Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progressive cerebello-cerebral atrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
4H leukodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebral ventriculomegaly, cystic kidney disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary lymphedema Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Phospholipase A2 activating protein-associated neurodevelopmental disorder Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ocular motor apraxia Cogan type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fetal encasement syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nephronophthisis hepatic fibrosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Keppen Lubinsky syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pierpont syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Prune exopolyphosphatase 1-related neurological syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 9 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Complex lethal osteochondrodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Stanescu type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Glucagon receptor-related hyperglucagonemia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Xq25 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal brain and heart developmental defects syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
8q24.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Duane retraction syndrome with congenital deafness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial congenital nasolacrimal duct obstruction Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Frontorhiny Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Primary failure of tooth eruption Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteofibrous dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Encephalopathy due to mitochondrial and peroxisomal fission defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
FG syndrome type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Otodental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XX ovarian dysgenesis, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Caroli syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar-facial-dental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital insensitivity to pain with severe intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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