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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
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
Long thumb brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb and dislocation of patella syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megalocornea with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Summitt Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated congenital megalocornea Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Renal coloboma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked periventricular heterotopia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tetra-amelia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Desmosterolosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bowen-Conradi syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability and progressive spastic paraplegia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal polymalformative syndrome Boissel type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia with presenile cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant prognathism of mandible (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 9 (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
High bone mass osteogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked osteoporosis with fractures Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Occipital pachygyria and polymicrogyria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cryohydrocytosis with reduced stomatin Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Extensor tendons of finger anomalies (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Richieri Costa-da Silva syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thoracic dysplasia and hydrocephalus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, autism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Subaortic stenosis and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
RIDDLE syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Holzgreve syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated aplastic anemia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability due to GRIA3 mutations Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Antecubital pterygium syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cobblestone lissencephaly without muscular or ocular involvement (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Muenke syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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