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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
Hypertelorism Teebi type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated optic nerve hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial scaphocephaly syndrome McGillivray type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XY partial gonadal dysgenesis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cryptomicrotia brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Crisponi syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniomicromelic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital short costocoracoid ligament Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Temple Baraitser syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atrial septal defect, atrioventricular conduction defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Omodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
5-amino-4-imidazole carboxamide ribosiduria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial male-limited precocious puberty Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polydactyly of biphalangeal thumb Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive faciodigitogenital syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bullous dystrophy macular type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Genochondromatosis type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infundibulopelvic stenosis multicystic kidney syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability Buenos Aires type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pierre Robin sequence, congenital heart defect, talipes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Brooks type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ptosis, strabismus, ectopic pupil syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Scalp defect postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Weaver Williams syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Epileptic encephalopathy with global cerebral demyelination Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cataract, congenital heart disease, neural tube defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated congenital asplenia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Hedera type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Nascimento type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature locking fingers syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive amelia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip retinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bone dysplasia lethal Holmgren type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis fibular aplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cyprus facial neuromusculoskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Marfanoid syndrome De Silva type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus, tall stature, joint laxity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, intellectual disability, sparse hair syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Symphalangism with multiple anomalies of hands and feet syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly and distal symphalangism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly and preaxial hallux varus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia with precocious puberty syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Branchial dysplasia, intellectual disability, inguinal hernia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital hypoplasia of ulna and split foot syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy telangiectasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dermatoleukodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Encephalopathy, intracerebral calcification, retinal degeneration syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Marfanoid habitus with autosomal recessive intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trigonocephaly, short stature, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Duplication of eyebrow and syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polydactyly myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated hereditary congenital facial paralysis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Banki syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked retinal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ulna metaphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebelloparenchymal disorder type 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia co-occurrent with ectodermal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ameloonychohypohidrotic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mirror hands and feet co-occurrent with nasal defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly of fingers type 8 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus co-occurrent with cervical spine fusion anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia with cleft palate and camptodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aplasia of fibula co-occurrent with complex brachydactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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