FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
Hidrotic ectodermal dysplasia Christianson Fourie type Is a True Developmental hereditary disorder Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy Is a True Developmental hereditary disorder Inferred relationship Some
Ptosis and vocal cord paralysis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Absent radius, anogenital anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Teebi Shaltout syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Grubben, De Cock, Borghgraef syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital myopathy with myasthenic-like onset Is a True Developmental hereditary disorder Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cerebrofacioarticular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Developmental hereditary disorder Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Velofacioskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Wiedemann Steiner syndrome Is a True Developmental hereditary disorder Inferred relationship Some
White forelock with malformations syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic ataxia with congenital miosis Is a True Developmental hereditary disorder Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial vesicoureteral reflux Is a True Developmental hereditary disorder Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isolated congenital adermatoglyphia Is a True Developmental hereditary disorder Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macrocephaly and developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Keipert syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Malan overgrowth syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Corpus callosum agenesis, abnormal genitalia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculoauricular syndrome Schorderet type Is a True Developmental hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 1 Is a False Developmental hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Developmental hereditary disorder Inferred relationship Some
Neonatal Marfan syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Renal hepatic pancreatic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly elbow wrist dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Developmental hereditary disorder Inferred relationship Some
Familial isolated trichomegaly Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Branchiootic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores Is a True Developmental hereditary disorder Inferred relationship Some
King Denborough syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection Is a True Developmental hereditary disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial generalised lentiginosis Is a True Developmental hereditary disorder Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type Is a True Developmental hereditary disorder Inferred relationship Some
Hartsfield syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked cleft palate and ankyloglossia Is a True Developmental hereditary disorder Inferred relationship Some
Radio-renal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trichodysplasia xeroderma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trichoodontoonychial dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Diencephalic mesencephalic junction dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Cono-spondylar dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Jawad syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thrombocythaemia with distal limb defect Is a True Developmental hereditary disorder Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thakker Donnai syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Zechi Ceide syndrome Is a True Developmental hereditary disorder Inferred relationship Some
CK syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive frontotemporal pachygyria Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Roifman syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability with strabismus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some

Start Previous Page 11 of 15 Next End

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start