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363070008: Developmental hereditary disorder (disorder)

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

Descriptions:

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

2097 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 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
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Some
Sanjad Sakati syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive dysgenesis of anterior segment of eye Is a True Developmental hereditary disorder Inferred relationship Some
Familial cavitary optic disc anomaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Central core disease Is a True Developmental hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Developmental hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Developmental hereditary disorder Inferred relationship Some
4H leukodystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polymicrogyria due to TUBB2B mutation Is a True Developmental hereditary disorder Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary lymphedema Is a True Developmental hereditary disorder Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ocular motor apraxia Cogan type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fetal encasement syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pierpont syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Developmental hereditary disorder Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type Is a True Developmental hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Xq25 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Developmental hereditary disorder Inferred relationship Some
Familial congenital nasolacrimal duct obstruction (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Frontorhiny (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Developmental hereditary disorder Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Developmental hereditary disorder Inferred relationship Some
Primary failure of tooth eruption (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Isolated osteopoikilosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteofibrous dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
FG syndrome type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Otodental syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Caroli syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Developmental hereditary disorder Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Developmental hereditary disorder Inferred relationship Some
NDE1-related microhydranencephaly Is a True Developmental hereditary disorder Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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