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363070008: Developmental hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

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

2064 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Some
Sanjad Sakati syndrome 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Steel syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Central core disease Is a True Developmental hereditary disorder Inferred relationship Some
Congenital fibre-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 fibre-type disproportion myopathy due to SELENON mutation Is a True Developmental hereditary disorder Inferred relationship Some
MIRAGE syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Lymphoedema, posterior choanal atresia syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Severe oculo-renal-cerebellar syndrome 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 fibre-type disproportion myopathy due to TPM3 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Progressive cerebello-cerebral atrophy Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 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 leucodystrophy 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 fibre-type disproportion myopathy due to MYH7 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary lymphoedema 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 Is a True Developmental hereditary disorder Inferred relationship Some
PLAA-associated neurodevelopmental disorder Is a True Developmental hereditary disorder Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy 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 Is a True Developmental hereditary disorder Inferred relationship Some
Oculomotor apraxia - Cogan type 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 Is a True Developmental hereditary disorder Inferred relationship Some
Boichis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pierpont syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome 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
SYNGAP1-related developmental and epileptic encephalopathy Is a True Developmental hereditary disorder Inferred relationship Some
PRUNE1-related neurological syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Developmental hereditary disorder Inferred relationship Some
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Complex lethal osteochondrodysplasia 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
GCGR-related hyperglucagonaemia 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 Is a True Developmental hereditary disorder Inferred relationship Some
8q24.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Frontorhiny 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 Is a True Developmental hereditary disorder Inferred relationship Some
Isolated osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Osteofibrous dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
MIRAGE syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Developmental hereditary disorder Inferred relationship Some
FG syndrome type 1 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 Is a True Developmental hereditary disorder Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Caroli syndrome Is a True Developmental hereditary disorder Inferred relationship Some
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Developmental hereditary disorder Inferred relationship Some

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