FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2110 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 (core metadata concept)
Developmental hereditary disorder Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sanjad Sakati syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism type II (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebello-cerebral atrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
4H leucodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Polymicrogyria due to TUBB2B mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to MYH7 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral ventriculomegaly, cystic kidney disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ocular motor apraxia Cogan type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fetal encasement syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keppen Lubinsky syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pierpont syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 9 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Stanescu type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal brain and heart developmental defects syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital nasolacrimal duct obstruction Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontorhiny (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary failure of tooth eruption (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteofibrous dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
MIRAGE syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otodental syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XX ovarian dysgenesis, short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar-facial-dental syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

Start Previous Page 14 of 15 End

This concept is not in any reference sets

Back to Start