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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
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hidrotic ectodermal dysplasia Christianson Fourie type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pilodental dysplasia, refractive errors syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ptosis and vocal cord paralysis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Absent radius, anogenital anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Teebi Shaltout syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Grubben, De Cock, Borghgraef syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with myasthenic-like onset Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebrofacioarticular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Velofacioskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Wiedemann Steiner syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniodigital syndrome and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic ataxia with congenital miosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Curly hair, acral keratoderma, caries syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial vesicoureteral reflux Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated congenital adermatoglyphia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dislocation of hip and facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly and developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Keipert syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Malan overgrowth syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculoauricular syndrome Schorderet type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 1 Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Neonatal Marfan syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pachygyria, intellectual disability, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Renal hepatic pancreatic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly elbow wrist dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated trichomegaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Branchiootic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with internal nuclei and atypical cores Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
King Denborough syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial thoracic aortic aneurysm and aortic dissection Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Rolandic epilepsy, speech dyspraxia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial generalized lentiginosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked cleft palate and ankyloglossia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Radio-renal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trichodysplasia xeroderma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trichoodontoonychial dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature due to growth hormone secretagogue receptor deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diencephalic mesencephalic junction dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cono-spondylar dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multicentric carpotarsal osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polymicrogyria with optic nerve hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Parietal foramina with clavicular hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Jawad syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thrombocythemia with distal limb defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, craniofacioskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thakker Donnai syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Zechi Ceide syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
CK syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis and dental anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive frontotemporal pachygyria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Roifman syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability with strabismus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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